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1167","UPHENO:0082301","UPHENO:0002464","UPHENO:0076727","UBERON:0002102","UPHENO:0041644","UBERON:0005417","UPHENO:7000136","UPHENO:0002708","UPHENO:0005106","UPHENO:0041226","UBERON:0004921","UPHENO:0082678","UPHENO:0003415","UPHENO:0079876","GO:0006939","UBERON:0011582","UPHENO:0088186","UBERON:0011818","HP:0000978","UBERON:0007100","MPATH:120","GO:0022601","UPHENO:0080843","HP:0011276","UPHENO:0003182","UPHENO:0001382","UBERON:0000160","HP:0001933","UPHENO:7000539","HP:0002360","UPHENO:0049622","UPHENO:0086487","UBERON:0002331","UPHENO:0005596","UPHENO:0053346","UPHENO:0002909","UPHENO:0005433","UBERON:0001046","HP:0000716","UPHENO:0050106","NBO:0000003","NBO:0000233","HP:0025766","HP:0001373","GO:0007610","HP:0003011","UPHENO:0079846","UPHENO:0074360","UPHENO:0041098","HP:0032120","UPHENO:0075843","UBERON:0005172","UPHENO:0003081","GO:0050882","UBERON:0017672","UPHENO:0002755","UPHENO:0086122","HP:0002104","UBERON:0007118","UPHENO:0033616","UBERON:0007823","UPHENO:0051460","UPHENO:0002623","UPHENO:0086116","UPHENO:0087577","UPHENO:0033610","HP:0100790","HP:0001551","UPHENO:0075655","HP:0100645","UPHENO:0087912","UPHENO:0002211","UBERON:0000478","UBERON:0003697","UPHENO:0075872","UPHENO:0002598","UPHENO:0086121","HP:0040286","HP:0002035","UBERON:0016887","HP:0003134","UPHENO:0041203","HP:0002019","UPHENO:0087172","UPHENO:0086769","UPHENO:0077421","UPHENO:0005539","UPHENO:0049995","UPHENO:0005022","UPHENO:0005579","UPHENO:0002320","UPHENO:0002352","UPHENO:0005517","UPHENO:0005537","GO:0007588","UPHENO:0079842","UPHENO:0079832","NBO:0000469","MPATH:119","NBO:0000018","UPHENO:0041369","UBERON:0035133","HP:0030880","UBERON:0004710","UPHENO:0084767","HP:0012732","UPHENO:0068971","UPHENO:0041565","UBERON:0002104","HP:0000023","UPHENO:0002584","UPHENO:0003031","UBERON:0001162","UBERON:0004908","UPHENO:0002418","UPHENO:0005057","UBERON:0000945","UPHENO:0004481","UPHENO:0004486","UPHENO:0002474","UPHENO:0002259","UPHENO:0002359","UPHENO:0002282","UBERON:0005090","UBERON:0010409","UBERON:0004550","UPHENO:0004721","UPHENO:0002422","UPHENO:0002904","UPHENO:7000231","UBERON:0011185","UPHENO:0002952","UBERON:0001043","HP:0012378","UPHENO:0080387","UPHENO:0002362","UPHENO:0003044","HP:0002020","UPHENO:0080555","UPHENO:0080556","NCBITaxon:1","HP:0001324","UPHENO:0053004","UPHENO:0041667","UPHENO:0005319","UBERON:0011823","UBERON:0001711","UPHENO:0063515","HP:0012638","UPHENO:0087307","UPHENO:0072345","UBERON:1000021","UPHENO:0072212","HP:0000739","UPHENO:0001231","UBERON:0005800","HP:0000481","UBERON:0000062","UPHENO:0072266","UPHENO:0001369","UPHENO:0084519","UBERON:0013766","UPHENO:0002725","UPHENO:0052857","UBERON:0001084","UPHENO:0002433","UPHENO:0002668","UPHENO:0082557","UPHENO:0072332","UPHENO:0072355","UPHENO:0072415","UPHENO:0082555","HP:0001252","UPHENO:0086792","UBERON:0004582","HP:0000691","UBERON:0003920","UPHENO:0087663","UBERON:0001638","UPHENO:0068923","HP:0033353","UBERON:0001135","UPHENO:0003110","HP:0005293","UBERON:0010707","UPHENO:0003605","UBERON:0001637","HP:0011004","UPHENO:0004457","UPHENO:0003019","UBERON:0004571","UBERON:0004572","UPHENO:0086797","UPHENO:0002781","UBERON:0006716","UPHENO:0079870","UPHENO:0086091","HP:0031815","HP:0003019","UPHENO:0002696","UPHENO:0051278","HP:0001892","HP:0002579","UPHENO:0080282","UPHENO:0050696","UBERON:0011820","GO:0050892","UBERON:0003519","UPHENO:0002536","UPHENO:0076943","UPHENO:0002200","UPHENO:0001044","HP:0004970","HP:0012719","UPHENO:0076765","UBERON:0000153","UBERON:0015410","UPHENO:0084177"],"has_phenotype_closure_label":["Abnormal tendon morphology","tendon","menstrual cycle phase","Abnormal female reproductive system physiology","female reproductive system physiology phenotype","Abnormality of the menstrual cycle","Menometrorrhagia","biological phase phenotype","menstruation phenotype","Abnormal bladder morphology","Abnormality of the lower urinary tract","bladder organ","urinary bladder","renal/urinary system phenotype","cavitated compound organ phenotype","Abnormality of the bladder","bladder organ phenotype","Abnormality of the urinary system","bladder morphology","lower urinary tract","renal system phenotype","Genital hernia","female reproductive system","female reproductive organ","female organism","female reproductive system phenotype","internal female genitalia phenotype","vagina","internal genitalia phenotype","oviduct","subdivision of oviduct","reproductive organ","reproductive structure","vagina morphology phenotype","reproductive organ phenotype","Abnormal reproductive system morphology","reproductive system morphology phenotype","Abnormal internal genitalia","subdivision of oviduct phenotype","Abnormal morphology of female internal genitalia","female reproductive organ morphology phenotype","internal female genitalia","artery physiology phenotype","arterial blood vessel physiology phenotype","vascular system physiology phenotype","Raynaud phenomenon","Abnormal vascular physiology","blood vessel physiology phenotype","fatigue","blood circulation","heart process","cardiovascular system physiology phenotype","Abnormal cardiovascular system physiology","heart contraction","Arrhythmia","autonomic nervous system physiology phenotype","Abnormal autonomic nervous system physiology","autonomic nervous system","Chronic pain","high myopia","High myopia","Abnormality of refraction","reproductive structure phenotype","Pelvic organ prolapse","myopia","Myopia","skeletal muscle organ, vertebrate phenotype","lower urinary tract phenotype","musculature of trunk phenotype","muscle organ morphology phenotype","musculature of trunk","skeletal musculature phenotype","Aplasia/Hypoplasia of the abdominal wall musculature","Abnormal morphology of the abdominal musculature","Abnormal skeletal muscle morphology","abdomen musculature","skeletal musculature","abdomen musculature phenotype","Abnormal axial muscle morphology","axial muscle phenotype","somite","migrating mesenchyme population","epithelial vesicle","scoliosis","presomitic mesoderm morphology phenotype","cell condensation","Abnormal curvature of the vertebral column","somite phenotype","developing mesenchymal condensation","Scoliosis","vertebral column morphology phenotype","Abnormality of the vertebral column","migrating mesenchyme population phenotype","cell condensation phenotype","presomitic mesoderm","trunk mesenchyme phenotype","developing mesenchymal condensation phenotype","Arthralgia","pelvic girdle skeleton phenotype","Lower extremity joint dislocation","flat bone phenotype","mesenchyme from somatopleure phenotype","female organism phenotype","mesenchyme from somatopleure","joint of girdle morphology phenotype","hip joint phenotype","girdle skeleton","skeleton of pelvic complex","abdominal segment bone phenotype","zone of bone organ phenotype","trunk bone phenotype","flat bone","Abnormality of lower limb joint","Hip dislocation","trunk bone","hip","appendage girdle region","pelvic girdle bone/zone phenotype","pelvic girdle bone/zone","pelvic girdle skeleton","joint of girdle","abdominal segment bone","pelvic region element","pelvic girdle region","female reproductive organ phenotype","innominate bone","synovial joint of pelvic girdle morphology phenotype","synovial joint of pelvic girdle","girdle bone/zone","pelvic girdle bone/zone morphology phenotype","midface","increased height of the multi-tissue structure","decreased width of the multi-tissue structure","High palate","decreased size of the roof of mouth","increased size of the multi-tissue structure","upper jaw region","increased height of the multicellular anatomical structure","secondary palate morphology phenotype","increased height of the anatomical entity","anatomical entity height phenotype","increased height of the anatomical structure","midface phenotype","Abnormal palate morphology","roof of mouth morphology phenotype","increased height of the material anatomical entity","midface morphology phenotype","musculoskeletal movement","neuromuscular process","kinesthetic behavior","Gait disturbance","Abnormality of movement","neuromuscular process phenotype","body part movement","multicellular organismal movement phenotype","Loss of ambulation","voluntary movement behavior phenotype","voluntary musculoskeletal movement phenotype","Somatic sensory dysfunction","Abnormality of cranial sutures","primary subdivision of skull phenotype","nonsynovial joint phenotype","axial skeleton plus cranial skeleton morphology phenotype","fontanelle","postcranial axial skeleton","head mesenchyme phenotype","axial skeleton plus cranial skeleton","postcranial axial skeletal system","cranium","skull phenotype","neurocranium phenotype","presumptive paraxial mesoderm","cartilaginous neurocranium phenotype","fibrous joint phenotype","cranial suture","sclerotome phenotype","Abnormal axial skeleton morphology","paraxial mesoderm morphology phenotype","neurocranium","Abnormal cranial suture/fontanelle morphology","presumptive paraxial mesoderm phenotype","paraxial mesoderm","entire embryonic mesenchyme","fontanelle phenotype","fontanelle morphology phenotype","head paraxial mesoderm morphology phenotype","head paraxial mesoderm","decreased tissue homeostasis","multicellular organismal-level homeostasis","tissue remodeling","homeostatic process phenotype","tissue homeostasis","homeostatic process","decreased qualitatively tissue homeostasis","Osteolysis","Abnormal bone structure","decreased qualitatively homeostatic process","axial skeleton plus cranial skeleton phenotype","tissue homeostasis phenotype","decreased width of the roof of mouth","anatomical structure homeostasis phenotype","decreased homeostatic process","bulb of aorta","dilated ascending aorta","multicellular anatomical structure morphology in the heart phenotype","increased size of the subdivision of tube","anatomical entity morphology in the heart phenotype","anatomical structure morphology in the heart phenotype","Aortic root aneurysm","thoracic aorta morphology phenotype","organ part morphology in the heart phenotype","oviduct phenotype","dilated bulb of aorta","Osteoarthritis","Elbow dislocation","Upper extremity joint dislocation","elbow phenotype","hindlimb joint","Abnormal elbow physiology","synovial joint","elbow joint","synovial limb joint","synovial joint phenotype","elbow joint dislocation","Myalgia","Pain","Abnormal aortic morphology","Ascending tubular aorta aneurysm","developmental or adult structural  defect","sac","multi-limb segment region","hindlimb bud morphology phenotype","hindlimb bud","hindlimb","decreased anatomical structure homeostasis","organ component layer","increased size of the organ component layer","system process","subdivision of digestive tract phenotype","cartilaginous neurocranium","Abnormality of peripheral nerve conduction","Abnormal nerve conduction velocity","transmission of nerve impulse","independent continuant","aortic bulb aneurysm; aortic root aneurysm","cellular process","increased inflammatory response","electrically active cell","articulation phenotype","Skin nodule","Abnormality of the musculature","zone of skin morphology phenotype","Epistaxis","decreased nerve conduction velocity","Phenotypic abnormality","nerve conduction; nerve conduction velocity","Abnormal peripheral nervous system physiology","electrically responsive cell","intestine","axial musculature","Abnormal skull morphology","peripheral nervous system","segment of manus","Subcutaneous nodule","gross anatomical part","female reproductive system morphology phenotype","anatomical collection phenotype","articular system","skeletal joint","Abnormality of the skeletal system","optic cup morphology phenotype","decreased qualitatively anatomical structure homeostasis","Decreased nerve conduction velocity","Abnormal gastrointestinal tract morphology","dentition","Abnormal skeletal morphology","blastula","location of anatomical entity phenotype","articulation","peripheral nervous system physiology phenotype","vasculature phenotype","vasculature of eye morphology phenotype","sensory organ epithelium phenotype","anatomical junction phenotype","increased size of the organism subdivision","increased height of the secondary palate","blood vessel phenotype","Cystocele","anatomical entity thickness phenotype","great vessel of heart morphology phenotype","neural crest morphology phenotype","appendage girdle region phenotype","vessel phenotype","smooth muscle contraction","sphincter muscle phenotype","organ physiology phenotype","nervous system electrophysiology","anatomical entity length phenotype","keratoconjunctivitis","girdle bone/zone phenotype","anatomical collection","increased qualitatively biological_process in digestive tract","optic eminence morphology phenotype","cardiovascular system phenotype","cardiac atrium morphology phenotype","paraxial mesoderm phenotype","Abnormality of the orbital region","sensory system phenotype","Keratoconjunctivitis sicca","Unusual infection by anatomical site","epithelial fold","nervous system process phenotype","cardiac valve morphology phenotype","secondary palate","simple eye physiology phenotype","increased skeletal joint mobility","anatomical cluster phenotype","ectoderm-derived structure phenotype","integumental system","organ subunit phenotype","aorta morphology phenotype","Abnormal nervous system electrophysiology","eye physiology phenotype","ectoderm-derived structure physiology phenotype","multicellular organismal movement","anatomical entity atrophy","increased size of the anatomical structure","red eye","increased length of the organ part","autopod region phenotype","ear phenotype","neural groove phenotype","Rectal prolapse","embryo phenotype","cardiac chamber","Abnormal ocular adnexa morphology","Microdontia","limb endochondral element","pes","cardiovascular system","organ system subdivision physiology phenotype","Keratitis","neural fold morphology phenotype","Epicanthus","girdle skeleton phenotype","vasculature of eye phenotype","cardiovascular system morphology phenotype","Abdominal wall defect","decreased surface wetness of camera-type eye","visual system","neural plate phenotype","immaterial anatomical entity","decreased qualitatively multicellular organismal process","anxiety-related behavior","anatomical cluster","Striae distensae","circulatory disorder","increased length of the structure with developmental contribution from neural crest","organ subunit","conjunctiva","urinary bladder phenotype","viscus","simple eye phenotype","multicellular organism phenotype","Paresthesia","gingiva morphology phenotype","protruding anatomical entity","ecto-epithelium","anatomical entity morphology in the pelvic complex phenotype","optic vesicle","circulatory system process","heart plus pericardium","neural fold phenotype","decreased behavior","cornea phenotype","Abnormal eye morphology","organ part physiology phenotype","blood vasculature","muscle system process","camera-type eye morphology phenotype","neural crest-derived structure phenotype","eye morphology","blood vessel morphology phenotype","appendicular skeletal system","decreased size of the neural crest-derived structure","decreased thickness of the cornea","alimentary part of gastrointestinal system phenotype","cornea morphology phenotype","large intestine morphology phenotype","vascular system morphology phenotype","cornea thickness phenotype","eye epithelium","pigment epithelium of eye phenotype","Abnormal anterior eye segment morphology","arterial blood vessel phenotype","optic cup","Abnormal umbilicus morphology","Abnormality of peripheral nervous system electrophysiology","sensory organ epithelium","Conjunctivitis","neural crest-derived structure","vascular system","decreased surface wetness of anatomical entity","Inability to walk","tunica fibrosa of eyeball","zone of bone organ","skeletal element","Maladaptive fear-related cognitions","appendage","absent biological_process","fear/anxiety related behavior","gastrula morphology phenotype","cranial suture morphology phenotype","rectum","Decreased fertility","decreased size of the cornea","oral cavity","biological_process phenotype","optic vesicle phenotype","muscle organ","immature eye phenotype","Abdominal symptom","decreased size of the anatomical entity","forelimb joint","decreased size of the organ","aplasia or hypoplasia of skin of body","Abnormal cardiovascular system morphology","vasculature of eye","absent respiratory gaseous exchange by respiratory system","connective tissue phenotype","decreased size of the ectoderm-derived structure","decreased qualitatively muscle contraction","subdivision of organism along main body axis phenotype","musculature of body phenotype","paired limb/fin phenotype","Abnormality of connective tissue","future central nervous system","embryo","defense response","anterior lateral plate mesoderm","Gastrointestinal dysmotility","Abnormality of the female genitalia","upper eyelid","subdivision of tube phenotype","Abnormality of the cardiovascular system","pelvic region element phenotype","Abnormal vascular morphology","Soft skin","decreased width of the multicellular anatomical structure","nervous system process","Abnormal nervous system physiology","increased size of the multicellular anatomical structure","Abnormal elasticity of skin","reproductive system","Abnormality of the genitourinary system","continuant","vasculature of head phenotype","epithelial fold phenotype","Abnormality of the head","decreased qualitatively behavior","Atypical scarring of skin","internal ear physiology phenotype","entity","immaterial anatomical entity phenotype","neural plate morphology phenotype","vasculature of organ phenotype","flat anatomical entity","ectoderm","gastrointestinal sphincter","sense organ","anlage","peripheral nervous system phenotype","ocular adnexa","immune system","inflammatory response phenotype","epithelium","lower digestive tract","lateral structure","Dermatological manifestations of systemic disorders","shape of digit phenotype","skin of body phenotype","defecation","menstruation","decreased size of the structure with developmental contribution from neural crest","anatomical wall","Increased inflammatory response","corneal epithelium morphology phenotype","Nausea and vomiting","Opisthokonta","decreased multicellular organismal-level homeostasis","foregut phenotype","multicellular organism morphology phenotype","craniofacial suture morphology phenotype","digestive system phenotype","Generalized abnormality of skin","reproductive system phenotype","Abnormality of the nervous system","decreased anatomical entity tone","multicellular anatomical structure","process","decreased qualitatively digestive system process","aplasia or hypoplasia of anatomical entity","visual system phenotype","organ system subdivision","forelimb bud morphology phenotype","Abnormal joint morphology","unilaminar epithelium","heart primordium","organ part","exserted rectum","smooth muscle contraction phenotype","structure with developmental contribution from neural crest","Abnormal atrioventricular valve morphology","structure with developmental contribution from neural crest physiology phenotype","eye epithelium phenotype","increased inflammatory response in mouth","Abnormality of the lower limb","Headache","pectoral appendage","Abnormal oral physiology","cellular organisms","neural crest phenotype","anterior segment of eyeball","constipation","tissue phenotype","nonmetal atom","mucosa phenotype","decreased biological_process in multicellular organism","ecchymosis","embryo morphology phenotype","germ layer / neural crest","simple eye","craniofacial suture phenotype","sense organ phenotype","Abnormal corneal thickness","eye","Tendon rupture","germ layer morphology phenotype","anatomical space phenotype","anatomical system phenotype","primordium phenotype","hindgut morphology phenotype","gastroesophageal sphincter","tissue","ecto-epithelium phenotype","fibrous joint","organism subdivision phenotype","limb bud","limb segment phenotype","Abnormal cornea morphology","endochondral element phenotype","Abnormality of the elbow","main group element atom","subdivision of head phenotype","protruding mitral valve","axial muscle","All","High, narrow palate","subdivision of head","anatomical cavity phenotype","vessel","upper digestive tract","increased biological_process in mouth","trunk","decreased size of the multi-tissue structure","increased qualitatively biological_process","skin of body atrophy","chemical entity level phenotype","biological_process","multi-limb segment region phenotype","presumptive structure","subdivision of digestive tract","face phenotype","defense response phenotype","corneal epithelium","oxygen atom","lateral structure physiology phenotype","internal ear","ocular surface region morphology phenotype","skeleton","Abnormality of the musculoskeletal system","Abnormality of the genital system","decreased size of the calcareous tooth","integument phenotype","Abnormal eyelid morphology","paired limb/fin segment","anatomical structure physiology phenotype","digestive system element","autopodial extension","skeletal joint morphology in the pectoral complex phenotype","Abnormality of the upper limb","eyelid morphology phenotype","skin of body","digestive system morphology phenotype","decreased gastro-intestinal system smooth muscle contraction","incomplete closing of the abdominal wall","Aplasia/Hypoplasia of the skin","large intestine","anterior segment of eyeball morphology phenotype","drooping anatomical entity","systemic artery phenotype","increased response to stimulus","digestive system element phenotype","vasculature","presumptive ectoderm","neuron","anatomical entity morphology phenotype","alimentary part of gastrointestinal system","subdivision of skeletal system","bone of pelvic complex morphology phenotype","decreased muscle organ tone","cell","decreased width of the secondary palate","decreased size of the material anatomical entity","embryonic craniocervical region","musculoskeletal system phenotype","Anorectal anomaly","multi organ part structure phenotype","thoracic segment organ physiology phenotype","serous sac","hemorrhage and non-specified extravasation","great vessel of heart","mesenchyme phenotype","phenotype","pigment epithelium of eye","mesenchyme","digestive tract","sleep","integumental system phenotype","tube phenotype","organ phenotype","Abnormality of the skin","subdivision of organism along appendicular axis phenotype","bone structure","systemic artery","behavior phenotype","Metazoa","exserted anatomical entity","non-connected functional system","organ","cardiogenic splanchnic mesoderm morphology phenotype","chalcogen","organism subdivision","multi-tissue structure","thoracic segment organ","anatomical conduit","immature eye","subdivision of tube","Abnormality of the gingiva","trunk mesenchyme","incomplete closing of the multicellular anatomical structure","multicellular organismal process","Decreased corneal thickness","respiratory system phenotype","cardiogenic splanchnic mesoderm phenotype","camera-type eye phenotype","Scarring","biological_process in digestive tract phenotype","heart","anatomical structure atrophy","presomitic mesoderm phenotype","Abnormal skin morphology","skeletal system phenotype","cardiogenic splanchnic mesoderm","Abnormality of the gastrointestinal tract","Increased corneal curvature","ascending aorta morphology phenotype","digestive system","Umbilical hernia","presumptive structure phenotype","mouth physiology phenotype","paired limb/fin bud","neural plate","vein phenotype","disconnected anatomical group","tube","digitopodium region","nervous system","increased defense response in eyeball of camera-type eye","shape of longitudinal arch of pes phenotype","Abnormal digestive system morphology","cornea","outflow part of left atrium","anatomical structure","pre-chordal neural plate","intestine phenotype","decreased thickness of the anatomical entity","Exercise-induced myalgia","ectoderm morphology phenotype","neural crest","pelvic region of trunk","mouth morphology phenotype","thoracic cavity element","skeletal joint dislocation","increased size of the zone of organ","anatomical conduit phenotype","increased size of the thoracic cavity blood vessel","cell communication","large intestine phenotype","mouth mucosa morphology phenotype","Abnormal bleeding","gastro-intestinal system smooth muscle contraction phenotype","Abnormality of the vasculature of the eye","head mesenchyme morphology phenotype","size of cornea phenotype","decreased muscle system process","unilaminar epithelium phenotype","pelvic appendage bud","neural cell","musculoskeletal system","subdivision of tube physiology phenotype","craniocervical region phenotype","compound organ phenotype","body proper","increased inflammatory response in eyeball of camera-type eye","anatomical system","organ part phenotype","circulatory system phenotype","germ layer","eukaryotic cell","Abnormality of reproductive system physiology","increased inflammatory response in gingiva","zone of skin","skeletal joint mobility phenotype","conjunctival sac","occurrent","eye primordium phenotype","Abnormality of the digestive system","rectum phenotype","hindgut","voluntary musculoskeletal movement","increased biological_process in gingiva","trunk region element phenotype","Abnormal conjunctiva morphology","hindgut phenotype","sense organ physiology phenotype","surface structure","increased inflammatory response in mouth mucosa","Abnormality of the curvature of the cornea","skeletal system","decreased qualitatively bone resorption","mesoderm morphology phenotype","musculature","craniocervical region morphology phenotype","embryonic tissue morphology phenotype","jaw region","developing anatomical structure","Abnormality of the respiratory system","Abnormal judgment","phenotypic effect","arterial blood vessel","Keratosis pilaris","Abnormal eye physiology","pre-chordal neural plate phenotype","future nervous system","increased length of the organism subdivision","anatomical system physiology phenotype","Abnormal intestine morphology","increased size of the vessel","increased qualitatively response to stimulus","electrically signaling cell","vestibulo-auditory system","lateral plate mesoderm morphology phenotype","increased size of the anatomical entity","Constitutional symptom","motivation behavior","decreased size of the tooth-like structure","head","Abnormal rectum morphology","Inflammatory abnormality of the eye","multicellular organism","neurocranium morphology phenotype","orbital region phenotype","zone of stomach","Abnormality of upper limb joint","gastrula","Abnormality of the eye","muscle system process phenotype","Narrow palate","hindlimb bud phenotype","structure with developmental contribution from neural crest atrophy","Abnormality of the integument","stress related behavior","system","limb bone phenotype","Aortic aneurysm","response to stimulus","connective tissue","anatomical entity physiology phenotype","increased biological_process in mouth mucosa","Abnormal large intestine morphology","multicellular anatomical structure phenotype","exserted mitral valve","presumptive ectoderm phenotype","p-block element atom","response to stimulus phenotype","Mitral valve prolapse","alimentary part of gastrointestinal system morphology phenotype","increased length of the zone of organ","anatomical structure phenotype","face","anatomical structure homeostasis","ectoderm phenotype","material anatomical entity phenotype","intestine morphology phenotype","vertebral column phenotype","external ectoderm","Slender finger","embryonic structure phenotype","sphincter muscle","germ layer phenotype","multicellular anatomical structure atrophy","hindlimb joint phenotype","wormian bones","dense mesenchyme tissue phenotype","Joint dislocation","external ectoderm morphology phenotype","Red eye","root","Acrocyanosis","response to stress phenotype","cranial skeletal system phenotype","future central nervous system phenotype","vessel physiology phenotype","subdivision of digestive tract physiology phenotype","cornea morphology","zone of organ phenotype","skin of body morphology phenotype","epithelium phenotype","increased defense response in mouth","Inguinal hernia","anatomical entity dislocation","embryonic tissue phenotype","genitourinary system phenotype","pelvic appendage","gingiva","Abnormal oral mucosa morphology","structure with developmental contribution from neural crest phenotype","zone of organ","Dermal atrophy","ocular adnexa phenotype","immune system physiology phenotype","Eumetazoa","terminal part of digestive tract","immune system phenotype","Abnormality of the face","Bruising susceptibility","ectoderm-derived structure","sensory system","head morphology phenotype","increased response to stress in eyeball of camera-type eye","multicellular anatomical structure physiology phenotype","increased biological_process in eyeball of camera-type eye","internal anal region","material anatomical entity physiology phenotype","cardia of stomach","Abnormal corneal epithelium morphology","increased volume of anatomical entity","Abnormality of head or neck","eye phenotype","limb bone","conjunctivitis","Abnormal oral morphology","Abnormal pattern of respiration","muscle structure physiology phenotype","smooth muscle tissue","limb endochondral element phenotype","Abnormality of the immune system","appendage girdle complex","incomplete closing of the anatomical entity","subdivision of skeletal system phenotype","anatomical space","integument","Arthritis","increased response to stimulus in gingiva","response to stress","craniofacial/craniocervical phenotype","musculature phenotype","mouth","chemical entity","olfactory organ phenotype","manus morphology phenotype","primary heart field phenotype","autopod region","Abnormality of the mouth","endochondral bone phenotype","decreased width of the material anatomical entity","oral cavity phenotype","oral cavity morphology phenotype","forelimb bud","lateral structure phenotype","forelimb","main body axis","vertebral column","Abnormal oral cavity morphology","embryonic tissue","Unusual infection","immaterial entity","skeletal element phenotype","developmental and structural abnormality","Abnormality of cardiovascular system electrophysiology","germ layer / neural crest phenotype","increased response to stress in gingiva","paired limb/fin bud phenotype","head phenotype","blood vessel","orbital region","limb skeleton subdivision","anatomical wall phenotype","increased length of the head or neck skin","smooth muscle tissue phenotype","gingiva phenotype","cranial suture phenotype","increased size of the autopodial extension","anatomical entity","embryonic structure","muscle structure","respiratory gaseous exchange by respiratory system","increased length of the autopodial extension","esophagus physiology phenotype","decreased size of the anatomical structure","skull morphology phenotype","manual digit","Abnormal affect","Vascular dilatation","musculoskeletal movement phenotype","Unusual oral cavity infection","Abnormality of the vasculature","bone of pelvic complex","Abnormal muscle physiology","mouth mucosa","left cardiac chamber","behavior","material anatomical entity morphology in the heart phenotype","inflammatory response","emotional behavior phenotype","digit morphology phenotype","paired limb/fin skeleton","incomplete closing of the anatomical wall","Eukaryota","increased response to stimulus in mouth","umbilicus","epithelial vesicle phenotype","taxon specific phenotype","Abnormality of the peripheral nervous system","internal genitalia","increased length of the skin of head","decreased width of the anatomical entity","eye primordium","organ component layer phenotype","organ atrophy","food storage organ","Cyanosis","craniocervical region","Abnormal blood vessel morphology","biological_process rate phenotype","abdominal segment element phenotype","anatomical entity morphology in the appendage girdle complex phenotype","cyanosis","mitral valve morphology phenotype","inguinal hernia","autonomic nervous system phenotype","neural groove","increased response to stress in mouth","limb phenotype","increased defense response in gingiva","increased length of the digit","appendage phenotype","vasculature of head","manual digit plus metapodial segment","reproductive system physiology phenotype","hindlimb phenotype","genitourinary system","Constipation","pelvic appendage bud phenotype","voluntary movement behavior","limb bud morphology phenotype","craniofacial suture","digestive system process phenotype","leg","paired limb/fin","limb segment","vein morphology phenotype","surface structure phenotype","eyeball of camera-type eye phenotype","limb bud phenotype","leg phenotype","subdivision of organism along appendicular axis","skeletal joint morphology phenotype","bone element","multicellular organismal-level homeostasis phenotype","Abnormality of limbs","posterior region of body","paired limb/fin segment phenotype","regular connective tissue","Abnormality of the autonomic nervous system","forelimb morphology phenotype","pes morphology phenotype","pelvic complex","Abnormal exteroceptive sensation","digestion","Fatigue","skeletal muscle organ, vertebrate","limb","excretory system","Abnormal foot morphology","biological_process in intestine phenotype","Thin skin","sclerotome morphology phenotype","decreased defecation","decreased thickness of the skin of body","Abnormal gastrointestinal motility","Abnormal pelvic girdle bone morphology","Hyperextensible skin","shape of anatomical entity in pectoral complex phenotype","eyeball of camera-type eye","digestive system physiology phenotype","muscle contraction rate phenotype","intestinal absorption phenotype","digestive system process","nervous system phenotype","circulatory system","system process phenotype","decreased bone resorption","bone of appendage girdle complex","Abnormal vagina morphology","Malabsorption","muscle organ phenotype","intestinal absorption","mesoderm","cardiogenic plate","decreased muscle contraction","pathological entity","pathological phenotype observation","hematopoietic system","respiratory system physiology phenotype","mesoderm-derived structure phenotype","hematopoietic system phenotype","left cardiac chamber phenotype","Localized skin lesion","nose phenotype","epistaxis","foregut","mesoderm-derived structure","respiratory system","hindlimb morphology phenotype","meso-epithelium","biological phase","bulb of aorta morphology phenotype","endochondral bone","multi-tissue structure phenotype","decreased anatomical entity strength","pathological anatomical entity","Abnormality of blood and blood-forming tissues","Elbow instability","Abnormal volitional state","exserted urinary bladder","Abnormality of the nose","increased response to stimulus in eyeball of camera-type eye","primary circulatory organ phenotype","hemolymphoid system","roof of mouth","Migraine","skin of head morphology phenotype","decreased width of the anatomical structure","Abnormal joint physiology","Limitation of joint mobility","gastroesophageal reflux","face morphology phenotype","Abnormal musculoskeletal physiology","musculoskeletal system physiology phenotype","Keratoconjunctivitis","skeletal joint physiology phenotype","increased length of the material anatomical entity","multi organ part structure","longitudinal arch of pes","increased qualitatively inflammatory response","decreased anatomical entity mobility","decreased rate of behavior process","skeleton phenotype","anatomical entity mobility phenotype","Hernia","Abnormality of joint mobility","neuroectoderm","subdivision of skeleton phenotype","multi organ part structure physiology phenotype","valve phenotype","mitral valve","abdomen element","thoracic cavity element phenotype","Functional abnormality of the inner ear","meso-epithelium phenotype","viscus phenotype","Abnormal mitral valve morphology","subdivision of trunk phenotype","subdivision of trunk","left cardiac atrium morphology phenotype","Abnormality of the ocular adnexa","dilated anatomical entity","outflow tract phenotype","Wormian bones","atrioventricular valve","nonsynovial joint","muscle organ physiology phenotype","atrioventricular valve morphology phenotype","Keratoconus","cardiac chamber phenotype","Abnormal hip bone morphology","heart primordium phenotype","ascending aorta","material entity","atom","splanchnic layer of lateral plate mesoderm","primary heart field","limb joint","excretion phenotype","lateral plate mesoderm phenotype","epithelial tube phenotype","increased size of the aorta","circulatory organ","outflow tract of atrium","circulatory organ phenotype","mouth phenotype","anlage phenotype","systemic artery morphology phenotype","cardiogenic plate morphology phenotype","trunk region element","primordium","compound organ","dilated aorta","outflow tract","neural fold","anxiety-related behavior phenotype","left cardiac atrium phenotype","splanchnic layer of lateral plate mesoderm phenotype","bone remodeling","oxygen atom level phenotype","anatomical junction","cardiopharyngeal field","camera-type eye physiology phenotype","atrioventricular region","lateral plate mesoderm","cardiac atrium","increased size of the blood vessel","heart tube phenotype","heart morphology phenotype","nose","Abnormal heart valve morphology","Abnormal heart morphology","incomplete closing of the organ part","head mesenchyme","heart phenotype","epithelial tube","synovial joint morphology phenotype","dense mesenchyme tissue","organ system subdivision phenotype","skeleton of limb","thoracic segment of trunk","cardiac atrium phenotype","left cardiac atrium","cranium morphology phenotype","Sleep disturbance","cardiac valve","thoracic segment organ phenotype","valve","increased size of the organ part","Gingival overgrowth","increased size of the material anatomical entity","hypertrophic multicellular anatomical structure","ear physiology phenotype","internal ear phenotype","neurectoderm phenotype","ear","material anatomical entity atrophy","bone of appendage girdle complex phenotype","Abnormal ear physiology","vestibulo-auditory system phenotype","Tooth malposition","Lack of skin elasticity","Abnormality of the ear","Vertigo","Muscle weakness","Abnormal vestibular function","skull","nervous system physiology phenotype","calcareous tooth phenotype","optic eminence","abdominal segment element","tooth-like structure phenotype","Abnormality of the dentition","manus phenotype","elbow","calcareous tooth","increased size of the digit","Abnormal dental morphology","dentition phenotype","decreased size of the multicellular anatomical structure","tooth-like structure","anatomical conduit physiology phenotype","calcareous tooth morphology phenotype","axial skeletal system","cranial skeletal system","autopod region morphology phenotype","epicanthal fold","decreased size of the skeletal element","bone resorption","anatomical entity phenotype","subdivision of skeleton","Dental crowding","Abnormal morphology of the great vessels","jaw skeleton","appendicular skeleton phenotype","primary subdivision of skull","facial skeleton","Apnea","digit phenotype","bone element phenotype","Abnormal arterial physiology","appendicular skeleton","limb skeleton subdivision phenotype","anatomical entity morphology in the pectoral complex phenotype","skeleton of limb phenotype","forelimb bud phenotype","muscle contraction","pectoral appendage phenotype","peripheral nervous system neuron","Abnormal finger morphology","camera-type eye","bone of free limb or fin","Peripheral cyanosis","upper limb segment","segment of autopod","Abnormal limb bone morphology","pectoral appendage bud","behavior process","embryonic autopod plate","hip dislocation","Abnormally lax or hyperextensible skin","extraembryonic structure phenotype","appendicular skeleton morphology phenotype","Abnormality of the hand","shape of manual digit phenotype","limb bone morphology phenotype","manual digitopodium region","aorta phenotype","endochondral element","musculature of body","decreased qualitatively biological_process","subdivision of organism along main body axis","increased length of the anatomical entity","digit plus metapodial segment","slender manual digit","decreased digestive system process","manus","embryonic autopod plate morphology phenotype","arm","bone of free limb or fin phenotype","forelimb phenotype","manual digit phenotype","Long fingers","skeletal joint phenotype","vasculature of organ","manual digit morphology in the manus phenotype","lower limb segment phenotype","Abnormal digit morphology","material anatomical entity","Abnormal emotional state","Abnormal appendicular skeleton morphology","increased size of the manual digit","shape of anatomical entity phenotype","increased length of the anatomical structure","lower limb segment","limb morphology phenotype","Abnormality of limb bone","Abnormality of digestive system physiology","arm phenotype","paired limb/fin skeleton phenotype","mesoderm phenotype","Thoracic aortic aneurysm","autopodial extension phenotype","slender anatomical entity","increased length of the manual digit","mesenchyme morphology phenotype","shape of continuant phenotype","pectoral appendage bud phenotype","artery morphology phenotype","gastrointestinal sphincter physiology phenotype","fibrous joint morphology phenotype","integumentary adnexa physiology phenotype","skin vasculature morphology; vascular skin abnormality","sac phenotype","integumentary adnexa phenotype","anatomical entity morphology in the manus phenotype","superficial fascia","Vascular skin abnormality","subcutaneous hemorrhage","osteoarthritis","Subcutaneous hemorrhage","integumentary adnexa","increased length of the skin of eyelid","Abnormality of mental function","Depression","behavior process phenotype","thoracic cavity blood vessel phenotype","Arachnodactyly","decreased biological_process","Abnormal diminished volition","Abnormal hip joint morphology","emotional behavior","decreased multicellular organismal process","entire extraembryonic component","dilated blood vessel","incomplete closing of the material anatomical entity","herniated abdominal wall","innominate bone morphology phenotype","acropodium region","extraembryonic structure","umbilical cord phenotype","conceptus","abdominal viscera","opening of the anatomical entity","hip joint","Abnormal respiratory system physiology","umbilical cord","esophagus phenotype","umbilicus morphology phenotype","internal female genitalia morphology phenotype","herniated umbilical cord","increased height of the roof of mouth","incomplete closing of the anatomical structure","heart tube morphology phenotype","herniated anatomical entity","Abnormal abdominal wall morphology","decreased muscle organ strength","Hernia of the abdominal wall","cell phenotype","decreased motivation behavior","Abnormality of immune system physiology","abdominal segment of trunk","size of anatomical entity phenotype","abdominal wall phenotype","abdominal wall","digestive system element physiology phenotype","developing anatomical structure phenotype","abdomen","pectoral complex","decreased system process","decreased qualitatively system process","defecation phenotype","decreased excretion","excretion","entire sense organ system","fear/anxiety related behavior phenotype","Venous insufficiency","pelvic appendage phenotype","increased size of the arterial blood vessel","mucosa","heart tube","Anxiety","Abnormal experience of reality","curvature anatomical entity","Pes planus","thoracic cavity element physiology phenotype","flat longitudinal arch of pes","increased biological_process","flattened anatomical entity","anal region","food storage organ phenotype","absent multicellular organismal process","gastroesophageal sphincter physiology phenotype","gastrointestinal sphincter phenotype","upper limb segment phenotype","trunk region element physiology phenotype","aorta","sphincter muscle physiology phenotype","stomach phenotype","increased length of the multicellular anatomical structure","muscle structure phenotype","esophagus","alimentary part of gastrointestinal system physiology phenotype","dense regular connective tissue","mesopodium region","digit","Abnormal esophagus physiology","viscus physiology phenotype","aneurysm","eyelid","stomach","olfactory organ","pes phenotype","Functional abnormality of the gastrointestinal tract","muscle tissue phenotype","Gastroesophageal reflux","trunk phenotype","hypertrophic gingiva","zone of stomach phenotype","skeletal system morphology phenotype","Hypotonia","Gingivitis","Joint hypermobility","increased anatomical entity mobility","innominate bone phenotype","ocular surface region","Ptosis","muscle tissue","anterior region of body","shape of eyelid phenotype","drooping eyelid","eyelid phenotype","increased length of the zone of skin","skin of face","skin of eyelid","increased size of the structure with developmental contribution from neural crest","primary circulatory organ","skin of head","increased length of the skin of face","skin of face morphology phenotype","Abnormal inflammatory response","increased size of the zone of skin","multicellular organismal process phenotype","Abnormal venous morphology","renal system","cardiac valve phenotype","increased length of the epicanthal fold","head or neck skin","muscle tone","anatomical cavity","Abnormal muscle tone","vein","venous blood vessel phenotype","venous blood vessel","venous system","artery","Abnormal systemic arterial morphology","increased size of the great vessel of heart","artery phenotype","Arterial dissection","systemic arterial system","dense connective tissue","cavitated compound organ","decreased skeletal joint mobility","arterial system","Abnormality of the wrist","carpal region","carpal region phenotype","mesopodium region phenotype","muscle contraction phenotype","decreased qualitatively muscle system process","gastro-intestinal system smooth muscle contraction","hip joint morphology phenotype","aortic system","great vessel of heart phenotype","aortic aneurysm","thoracic cavity blood vessel","thoracic aorta","bone of pelvic complex phenotype","increased size of the anatomical conduit","sclerotome","vision/eye phenotype","section of aorta"],"has_descendant":["MONDO:0007523"],"has_descendant_label":["Ehlers-Danlos syndrome, hypermobility type"],"has_descendant_count":1,"score":null,"highlighting":{}},{"id":"MONDO:0019391","category":"biolink:Disease","name":"Fanconi anemia","xref":["DOID:13636","GARD:0006425","ICD9:284.09","MEDGEN:41967","MESH:D005199","MedDRA:10055206","NANDO:1200303","NANDO:1200891","NANDO:2200652","NCIT:C62505","NORD:1132","OMIMPS:227650","Orphanet:84","SCTID:30575002","UMLS:C0015625"],"synonym":["Fanconi anemia","Fanconi pancytopenia","Fanconi's anemia","Panmyelopathy, Fanconi","pancytopenia, congenital","primary erythroid hypoplasia"],"full_name":null,"in_taxon":null,"in_taxon_label":null,"symbol":null,"file_source":"phenio_nodes","provided_by":"phenio_nodes","type":null,"description":"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.","iri":null,"has_attribute":null,"has_biological_sex":null,"exact_synonym":["Fanconi anemia","Fanconi pancytopenia","Fanconi's anemia","Panmyelopathy, Fanconi","pancytopenia, congenital","primary erythroid hypoplasia"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"same_as":null,"subsets":["clingen","doid_rare","gard_rare","nord_rare","ordo_disorder","ordo_malformation_syndrome","orphanet_rare","otar","rare"],"synonyms":null,"has_gene":null,"namespace":"MONDO","has_phenotype":["HP:0000135","HP:0000508","HP:0000072","HP:0003022","HP:0100542","HP:0000238","HP:0001510","HP:0000518","HP:0000347","HP:0012639","HP:0000377","HP:0006501","HP:0006101","HP:0001199","HP:0001873","HP:0001763","HP:0012041","HP:0001636","HP:0001263","HP:0002817","HP:0006265","HP:0000813","HP:0000453","HP:0001824","HP:0000047","HP:0008053","HP:0000478","HP:0000340","HP:0002827","HP:0000027","HP:0001646","HP:0000505","HP:0000365","HP:0002575","HP:0007400","HP:0040071","HP:0001639","HP:0004349","HP:0001671","HP:0002251","HP:0000864","HP:0000083","HP:0007565","HP:0000483","HP:0007874","HP:0100760","HP:0001882","HP:0000486","HP:0100867","HP:0001249","HP:0000492","HP:0001511","HP:0000364","HP:0000316","HP:0002664","HP:0001053","HP:0000639","HP:0012210","HP:0001903","HP:0000218","HP:0010293","HP:0006824","HP:0002245","HP:0000252","HP:0001631","HP:0000286","HP:0010469","HP:0000568","HP:0002863","HP:0001172","HP:0005522","HP:0002823","HP:0000268","HP:0000028","HP:0001770","HP:0002023","HP:0000010","HP:0000079","HP:0002007","HP:0004322","HP:0001392","HP:0000520","HP:0001347","HP:0002414","HP:0000324","HP:0005344","HP:0000035","HP:0000130","HP:0001643","HP:0012745","HP:0100587","HP:0001760","HP:0001562","HP:0008678","HP:0001679","HP:0004209","HP:0100026","HP:0001871","HP:0001537","HP:0003220","HP:0000175","HP:0000582","HP:0002119","HP:0002650","HP:0000504","HP:0001000"],"has_phenotype_label":["Microphthalmia","Ventriculomegaly","Astigmatism","Abnormal 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endochondral element phenotype","pedal digitopodium bone","Clubbing","autopod endochondral element phenotype","phalanx of pes morphology phenotype","pes bone phenotype","phalanx of pes","pes bone","pedal digitopodium bone phenotype","clavate anatomical entity","shape of digit phenotype","Arteriovenous malformation","arteriovenous malformation","venous blood vessel phenotype","duodenum phenotype","prepuce of penis phenotype","external soft tissue zone phenotype","undifferentiated genital tubercle","external soft tissue zone","penis morphology phenotype","Abnormal localization of kidney","decreased size of the orifice","Short palpebral fissure","decreased length of anatomical conduit","Abnormal size of the palpebral fissures","pedal digit digitopodial skeleton","decreased size of the palpebral fissure","Decreased fertility in males","absent organ in the multicellular organism","absent male reproductive organ","Abnormality of the testis size","absent anatomical structure in the male reproductive system","absent reproductive structure","absent gonad in the reproductive system","absent multicellular anatomical structure in the reproductive system","absent organ","absent reproductive structure in the reproductive system","absent organ in the reproductive system","absent multicellular anatomical structure in the multicellular organism","absent reproductive organ in the reproductive system","absent reproductive organ","absent material anatomical entity in the male reproductive system","absent material anatomical entity in the reproductive system","number of anatomical enitites of type organ phenotype","absent testis","skeleton of upper jaw","palatine uvula morphology phenotype","maxillary prominence morphology phenotype","aplasia or hypoplasia of palatine uvula","maxillary prominence","palatine uvula phenotype","Almond-shaped palpebral fissure","Abnormal shape of the palpebral fissure","nerve of head region phenotype","cranial nerve phenotype","Abnormal cranial nerve physiology","cranial neuron projection bundle phenotype","paralysed cranial nerve","Hypermelanotic macule","Cafe-au-lait spot","Multiple cafe-au-lait spots","fused manual digit and anatomical entity","fused anatomical entity and manual digit","fused manual digit and manual digit","kidney morphology phenotype","Hyperpigmentation of the skin","Irregular hyperpigmentation","size of palpebral fissure phenotype","increased biological_process in skin of body","absent anatomical entity in the male reproductive system","chamber of eyeball","malformed anatomical entity","anterior chamber of eyeball morphology phenotype","iris","Ocular anterior segment dysgenesis","aplasia or hypoplasia of iris","malformed anatomical structure","malformed anterior chamber of eyeball","shape of palpebral fissure phenotype","malformed chamber of eyeball","malformed organ part","Aplasia/Hypoplasia of the iris","malformed organ subunit","anterior chamber of eyeball","uvea","Aplasia/Hypoplasia affecting the uvea","radius bone morphology phenotype","aplasia or hypoplasia of radius bone","Aplasia/Hypoplasia of the radius","skeleton of pes","Abnormality of body height","multicellular organism height phenotype","decreased height of the anatomical entity","scoliosis","Abnormal curvature of the vertebral column","Scoliosis","Abnormality of the vertebral column","Abnormal 5th finger morphology","Abnormal hand morphology","deviation of manual digit towards the middle","deviation of anatomical entity","Deviation of finger","pelvic girdle skeleton phenotype","Lower extremity joint dislocation","mesenchyme from somatopleure phenotype","joint of girdle morphology phenotype","hip joint phenotype","girdle skeleton","skeletal joint","abdominal segment bone phenotype","zone of bone organ phenotype","trunk bone phenotype","anatomical entity dislocation","Hip dislocation","trunk bone","hip","appendage girdle region","girdle skeleton phenotype","morphological feature","Abnormal hip joint morphology","pelvic girdle bone/zone","joint of girdle","Abnormal toe phalanx morphology","limb joint","synovial joint","abdominal segment bone","pelvic girdle region","synovial joint of pelvic girdle morphology phenotype","synovial joint of pelvic girdle","hindlimb joint","Abnormal uvea morphology","girdle bone/zone","articulation","ossification","Reduced bone mineral density","Abnormal bone structure","anatomical entity mass density phenotype","Decreased anatomical entity mass density","organ system subdivision physiology phenotype","Neoplasm by anatomical site","Neoplasm","Hematological neoplasm","Abnormality of the respiratory system","respiratory system","respiratory system morphology phenotype","tracheobronchial tree","Abnormal tracheal morphology","endo-epithelium","esophagus","Abnormal tracheobronchial morphology","respiratory tube morphology phenotype","endoderm morphology phenotype","respiratory system physiology phenotype","trachea","endoderm phenotype","digestive tract epithelium phenotype","Finger syndactyly","esophagus morphology phenotype","Tracheoesophageal fistula","foregut epithelium","trachea phenotype","decreased length of arm bone","decreased size of the bone of free limb or fin","Upper limb undergrowth","decreased length of forelimb zeugopod bone","decreased length of bone element","palatine uvula","decreased size of the endochondral element","Abnormal upper limb bone morphology","decreased size of the long bone","forelimb skeleton phenotype","synovial joint phenotype","Hypoplasia of the ulna","aplasia or hypoplasia of ulna","bone of pectoral complex morphology phenotype","decreased size of the anatomical structure in the pectoral complex","zeugopod phenotype","Abnormal forearm morphology","small intestine morphology phenotype","forelimb zeugopod bone","Aplasia/hypoplasia involving forearm bones","Abnormal forearm bone morphology","Aplasia/hypoplasia involving bones of the upper limbs","decreased size of the forelimb endochondral element","Limb undergrowth","decreased size of the anatomical entity in the pectoral complex","decreased size of the limb endochondral element","decreased size of the material anatomical entity in the pectoral complex","decreased length of anatomical entity","Forearm undergrowth","ulna","decreased length of bone of free limb or fin","forelimb endochondral element phenotype","forelimb zeugopod morphology phenotype","forelimb zeugopod","arm bone phenotype","decreased size of the arm bone","forelimb zeugopod skeleton","zeugopod","Abnormal morphology of ulna","decreased length of forelimb endochondral element","decreased length of organ","decreased size of the bone of pectoral complex","hindlimb skeleton","upper leg bone phenotype","femur endochondral element phenotype","hindlimb endochondral element phenotype","skeleton of pelvic complex","bone of pelvic complex morphology phenotype","Abnormal respiratory system morphology","Abnormal femur morphology","leg bone","pelvic appendage skeleton","hindlimb stylopod morphology phenotype","hindlimb stylopod","femur endochondral element","pelvic girdle bone/zone phenotype","leg bone phenotype","femur","decreased length of forelimb bone","bone of pelvic complex","limb long bone phenotype","homeostatic process phenotype","decreased length of anatomical structure","Abnormality of chromosome stability","upper digestive tract","Abnormality of metabolism/homeostasis","Abnormal cellular phenotype","cellular developmental process","multicellular organismal-level homeostasis","erythrocyte homeostasis","soft palate morphology phenotype","cell development","myeloid cell differentiation","myeloid cell homeostasis","homeostatic process","cellular process","digestive tract epithelium","Pyridoxine-responsive sideroblastic anemia","Sideroblastic anemia","Abnormality of lower limb joint","common carotid artery plus branches","common carotid artery plus branches morphology phenotype","biological process involved in intraspecies interaction between organisms","delayed sorocarp development","delayed anatomical structure development","Neurodevelopmental delay","sorocarp development phenotype","socially cooperative development phenotype","biological process involved in intraspecies interaction between organisms phenotype","Neurodevelopmental abnormality","cognition","Abnormality of mental function","size of skull phenotype","decreased size of the head","aplasia or hypoplasia of telencephalon","Aplasia/Hypoplasia of the cerebrum","Aplasia/Hypoplasia involving the central nervous system","Abnormal cerebral morphology","location of camera-type eye phenotype","Strabismus","anatomical line","increased length of the anatomical line","increased size of the non-material anatomical boundary","anatomical line between pupils","Hypertelorism","venous system","duodenum","increased length of the anatomical line between pupils","increased height of the multi-tissue structure","bone of hip region phenotype","High palate","increased height of the multicellular anatomical structure","increased height of the anatomical structure","vestibulo-ocular reflex","decreased length of limb endochondral element","Abnormality of eye movement","vestibulo-ocular reflex phenotype","Nystagmus","facial skeleton phenotype","Abnormal facial skeleton morphology","epithelial fold phenotype","facial skeleton","bone of lower jaw","dentary phenotype","anatomical entity hypoplasia","aplasia or hypoplasia of skull","pharyngeal arch 1 phenotype","epithelial fold","neural crest morphology phenotype","Abnormal jaw morphology","bone of jaw","Micrognathia","facial bone hypoplasia","Aplasia/hypoplasia affecting bones of the axial skeleton","jaw skeleton morphology phenotype","mandibular prominence morphology phenotype","increased height of the anatomical entity","oral opening","aplasia or hypoplasia of mandible","absent gonad","bone element hypoplasia in face","neural groove phenotype","neural crest phenotype","aplasia or hypoplasia of skeleton","foregut","pharyngeal arch 1","jaw skeleton","pharyngeal arch","Aplasia/Hypoplasia of the mandible","Abnormal mandible morphology","facial bone","mandible morphology phenotype","neural fold phenotype","foregut phenotype","protuberance phenotype","localised anatomical structure","localised material anatomical entity","localised multicellular anatomical structure","Cryptorchidism","Abnormal uvula morphology","Renal hypoplasia/aplasia","localised reproductive organ","zone of organ","head or neck skin","increased length of the anatomical structure","increased length of the material anatomical entity","anatomical entity length phenotype","increased length of the zone of organ","skeletal joint dislocation","mandible phenotype","increased size of the zone of organ","decreased length of limb bone","dentary","increased length of the skin of eyelid","increased size of the structure with developmental contribution from neural crest","skin of face","increased length of the zone of skin","decreased qualitatively sensory perception of mechanical stimulus","sensory perception of sound phenotype","sensory perception of mechanical stimulus phenotype","increased size of the brain ventricle/choroid plexus","increased size of the organ component layer","size of brain ventricle phenotype","Ventriculomegaly","decreased multicellular organismal process","decreased embryo development","decreased qualitatively embryo development","decreased qualitatively multicellular organism development","neural fold morphology phenotype","Intrauterine growth retardation","absent organ in the male reproductive system","neuron projection bundle","increased qualitatively response to stimulus","behavior","response to external stimulus","neuromuscular process","kinesthetic behavior","multicellular organismal movement","response to stimulus","neuromuscular process phenotype","Abnormal nervous system physiology","increased qualitatively biological_process","body part movement","phalanx morphology phenotype","decreased sensory perception of sound","multicellular organismal movement phenotype","nervous system physiology phenotype","Hyperreflexia","reflexive behavior","increased response to external stimulus","voluntary musculoskeletal movement phenotype","cardiac atrium","ulna phenotype","facial skeleton morphology phenotype","cardiac atrium morphology phenotype","anatomical structure development phenotype","interatrial septum morphology phenotype","incomplete closing of the cardiac septum","atrial septum morphology","lobe of cerebral hemisphere","Abnormal frontal bone morphology","flat bone phenotype","cranial bone phenotype","head bone morphology phenotype","bone of craniocervical region phenotype","shape of frontal cortex phenotype","frontal cortex","multi cell part structure phenotype","dermal bone phenotype","neurocranium bone phenotype","frontal lobe","prepuce of penis morphology phenotype","decreased length of bone of pectoral complex","primary subdivision of cranial skeletal system","dermal bone","cranial bone","bone of craniocervical region","intramembranous bone","membrane bone","primary subdivision of cranial skeletal system phenotype","Clinodactyly of the 5th finger","dermal skeletal element","Abnormal reflex","cortex of cerebral lobe","multi cell part structure","pallium","dermatocranium","cranial nerve","brain gray matter","cerebral cortex","mandible hypoplasia","central nervous system cell part cluster","cerebral hemisphere","central nervous system cell part cluster phenotype","neurocranium bone","embryonic facial prominence","head bone","head mesenchyme morphology phenotype","head bone phenotype","head paraxial mesoderm","number of anatomical enitites of type gonad phenotype","gray matter of forebrain","frontal cortex morphology phenotype","central nervous system gray matter layer phenotype","brain gray matter phenotype","prominent anatomical entity","nervous system cell part layer phenotype","Slanting of the palpebral fissure","palpebral fissure phenotype","Abnormal renal morphology","flat anatomical entity","increased biological_process","flattened anatomical entity","flat longitudinal arch of pes","Abnormal involuntary eye movements","Abnormal erythrocyte morphology","anemia","articulation phenotype","oxygen accumulating cell","hematopoietic system morphology phenotype","Anemia","hindlimb endochondral element","erythrocyte","vasculature of trunk","skeleton of pedal digitopodium","multicellular anatomical structure morphology in the heart phenotype","Abnormal preputium morphology","embryonic cardiovascular system","anatomical structure morphology in the heart phenotype","neoplasm phenotype","nervous system cell part layer","incomplete closing of the coronary vessel","incomplete closing of the trunk blood vessel","coronary vessel morphology phenotype","coronary vessel","trunk blood vessel phenotype","skin of eyelid","heart blood vessel","trunk blood vessel","ductus arteriosus morphology phenotype","thoracic segment blood vessel","incomplete closing of the thoracic segment blood vessel","incomplete closing of the systemic artery","incomplete closing of the artery","midface","Orofacial cleft","anatomical space phenotype","anatomical cavity","immaterial entity","secondary palate morphology phenotype","immaterial anatomical entity","oral cavity","oral cavity morphology phenotype","roof of mouth","oral cavity phenotype","mouth","localised organ","Abnormal oral morphology","decreased length of skeletal element","midface phenotype","roof of mouth morphology phenotype","midface morphology phenotype","immaterial anatomical entity phenotype","number of platelet phenotype","Thrombocytopenia","secretory cell","platelet phenotype","decreased number of platelet","Clinodactyly","limb long bone morphology phenotype","myeloid cell","biogenic amine secreting cell","cell differentiation","number of myeloid cell phenotype","neural tube morphology phenotype","transparent eye structure phenotype","cerebral hemisphere gray matter","lens of camera-type eye","lens of camera-type eye phenotype","opaque anatomical entity","lens of camera-type eye morphology phenotype","Growth delay","delayed growth","penis phenotype","urethral opening","intermediate mesoderm","Abnormal penis morphology","Abnormal carotid artery morphology","embryonic cloaca phenotype","lower urinary tract phenotype","absent anatomical structure in the reproductive system","penis","Aplasia/Hypoplasia involving bones of the skull","Displacement of the urethral meatus","male urethral meatus","anal region","primitive urogenital sinus","urethral meatus","Aplasia/Hypoplasia of the uvula","embryonic cloaca","urethra morphology phenotype","intromittent organ phenotype","intromittent organ","embryonic cloacal fold","lower urinary tract","increased length of the structure with developmental contribution from neural crest","urethral meatus morphology phenotype","cloaca phenotype","cavitated compound organ physiology phenotype","increased length of the head or neck skin","compound organ physiology phenotype","kidney phenotype","kidney","Aplasia/Hypoplasia affecting the anterior segment of the eye","abdomen element physiology phenotype","decreased qualitatively sensory perception","Visual impairment","decreased qualitatively visual perception","decreased qualitatively multicellular organismal process","Abnormal platelet count","neural crest-derived structure, curved phenotype","manual digit 5","organ subunit phenotype","shape of cornea phenotype","cornea","phalanx phenotype","material anatomical entity, curved phenotype","cornea phenotype","Microcephaly","anatomical structure, curved phenotype","multicellular anatomical structure, curved phenotype","innominate bone phenotype","Ptosis","ocular surface region","anterior segment of eyeball","Astigmatism","neural fold","anatomical structure, asymmetrically curved phenotype","drooping anatomical entity","anterior segment of eyeball morphology phenotype","Abnormality of refraction","pharyngeal arch phenotype","tetrapod frontal bone","cornea morphology","Small intestinal stenosis","ectoderm-derived structure, asymmetrically curved phenotype","increased size of the ventricle of nervous system","Abnormal cornea morphology","oral cleft; orofacial cleft","Abnormal anterior eye segment morphology","curved anatomical entity","structure with developmental contribution from neural crest, curved phenotype","physiologic nystagmus","incomplete closing of the organ part","Abnormal umbilicus morphology","abdominal wall","hip dislocation","indifferent external genitalia","extraembryonic structure phenotype","Hernia of the abdominal wall","connective tissue phenotype","Abnormal abdominal wall morphology","Abdominal wall defect","esophagus phenotype","forelimb zeugopod phenotype","umbilicus morphology phenotype","hip joint","umbilical cord","decreased length of palpebral fissure","neural crest-derived structure, asymmetrically curved phenotype","incomplete closing of the abdominal wall","abdominal viscera","conceptus","umbilical cord phenotype","entire extraembryonic component","Hernia","increased length of the immaterial anatomical entity","Microphthalmia","size of eyeball of camera-type eye phenotype","Abnormality of globe size","aplasia or hypoplasia of eyeball of camera-type eye","Aplasia/hypoplasia involving bones of the extremities","decreased size of the organ","decreased size of the eyeball of camera-type eye","behavior process","Aplasia/Hypoplasia affecting the eye","decreased size of the sense organ","vascular plexus","brain phenotype","Abnormal cerebrospinal fluid morphology","regional part of brain phenotype","material anatomical entity morphology in the heart phenotype","brain ventricle","forebrain","increased number of ventricle of nervous system in the cerebrospinal fluid","increased length of the non-material anatomical boundary","ventricle of nervous system phenotype","brain ventricle/choroid plexus morphology phenotype","multicellular organism development phenotype","incomplete closing of the roof of mouth","brain","increased number of anatomical entity in the blood","decreased nervous system process","ventricle of nervous system","regional part of brain","increased number of organ part in the cerebrospinal fluid","stylopod","aplasia or hypoplasia of anatomical entity","vasculature of central nervous system plus retina phenotype","increased number of anatomical structure","voluntary movement behavior phenotype","vascular plexus phenotype","increased number of brain ventricle/choroid plexus in the cerebrospinal fluid","number of anatomical enitites of type organ part phenotype","delayed developmental process","behavior process phenotype","increased number of material anatomical entity","curvature anatomical entity","increased number of organ component layer","Decreased fertility","telencephalon","decreased size of the forelimb bone","forebrain phenotype","increased number of anatomical entity","respiratory tract","brain ventricle morphology phenotype","increased size of the brain ventricle","incomplete closing of the anatomical conduit","brain morphology phenotype","increased number of brain ventricle","Hydrocephalus","brain ventricle/choroid plexus phenotype","regional part of nervous system","cerebrospinal fluid phenotype","increased number of anatomical structure in the cerebrospinal fluid","localised gonad","opaque lens of camera-type eye","increased number of multicellular anatomical structure","Proptosis","Abnormal eye morphology","protruding anatomical entity","brain ventricle/choroid plexus","location of eyeball of camera-type eye phenotype","location of anatomical entity phenotype","amniotic fluid","Abnormal cellular physiology","Abnormality of prenatal development or birth","femur phenotype","umbilicus","amniotic fluid phenotype","late embryo","Upslanted palpebral fissure","late embryo phenotype","embryonic development/birth phenotype","primary subdivision of skull phenotype","blood cell","postcranial axial skeleton","vault of skull","head mesenchyme phenotype","axial skeleton plus cranial skeleton","cranial skeletal system","decreased sensory perception of mechanical stimulus","cartilaginous neurocranium","skull","axial skeletal system","axial skeleton plus cranial skeleton phenotype","musculoskeletal movement phenotype","decreased functionality of the organ component layer","organ part physiology phenotype","Abnormal myocardium morphology","craniocervical region phenotype","compound organ phenotype","multicellular organismal process phenotype","intermediate mesoderm morphology phenotype","blastula","Abnormal eyelid morphology","behavior phenotype","anterior neural tube phenotype","Metazoa","unilaminar epithelium phenotype","dermal skeletal element phenotype","glans penis","anus","eye morphology","Decreased total leukocyte count","face","anatomical projection","hematopoietic cell","bone element mass density phenotype","decreased length of bone of appendage girdle complex","Abnormality of the head","Abnormal shape of the frontal region","tunica fibrosa of eyeball","material anatomical entity mass phenotype","neural crest","ectoderm morphology phenotype","renal system phenotype","gray matter of telencephalon","chemosensory system phenotype","craniofacial/craniocervical phenotype","Decreased head circumference","physiologic nystagmus phenotype","spinal cord phenotype","Abnormality of head or neck","heart tube","anatomical structure atresia","neural plate phenotype","decreased number of material anatomical entity","ectoderm","Abnormal calvaria morphology","Abnormality of the face","increased pigmentation","presumptive ectoderm phenotype","multi organ part structure phenotype","Abnormality of bone mineral density","face phenotype","Abnormality of the upper limb","neurocranium morphology phenotype","orbital region phenotype","Opisthokonta","increased length of the skin of head","internal genitalia","forelimb long bone phenotype","female reproductive organ","thoracic cavity blood vessel","increased number of material anatomical entity in the cerebrospinal fluid","female organism","pedal digit morphology phenotype","oviduct phenotype","long bone morphology phenotype","Abnormal thumb morphology","Spina bifida","mesenchyme from somatopleure","localised reproductive structure","female organism phenotype","Epicanthus","Abnormal leukocyte morphology","subdivision of oviduct","Abnormal morphology of female internal genitalia","Abnormality of the endocrine system","reproductive structure","artery phenotype","incomplete closing of the blood vessel","reproductive system","camera-type eye morphology phenotype","cerebral cortex morphology phenotype","uterus","hindlimb long bone phenotype","Abnormal testis morphology","gonad","Abnormality of the genitourinary system","genitourinary system","female reproductive organ morphology phenotype","Abnormal morphology of the radius","heart vasculature","reproductive organ phenotype","Abnormal reproductive system morphology","reproductive system phenotype","artery morphology phenotype","endoderm of foregut phenotype","male organism phenotype","size of multicellular organism phenotype","external male genitalia phenotype","uterus phenotype","increased size of the abdominal segment element","tube","digitopodium region","vertebra morphology phenotype","male reproductive system phenotype","Global developmental delay","leg","cellular organisms","vein","male organism","tetrapod frontal bone phenotype","male reproductive organ phenotype","ocular surface region morphology phenotype","Abnormality of thumb phalanx","future nervous system","pelvic girdle skeleton","structure with developmental contribution from neural crest, asymmetrically curved phenotype","sensory perception","manual digitopodium bone","respiratory system morphology","female reproductive system","incomplete closing of the material anatomical entity","limb bone morphology phenotype","heart left ventricle morphology phenotype","manus bone","urogenital fold","manual digit bone","autopodial skeleton","Abnormal lower limb bone morphology","cardiac valve","delayed biological_process","acropodial skeleton","aorta phenotype","Abnormality of the curvature of the cornea","skeletal system","forelimb bone","non-material anatomical boundary phenotype","autopod bone","root","lower jaw region","skeleton of manus","skull morphology phenotype","manual digit","decreased size of the anatomical structure","digit 1 digitopodial skeleton","tissue","skeleton of lower jaw","pectoral appendage skeleton","upper jaw region","individual digit of digitopodial skeleton","articular system","skeleton of manual acropodium","abdominal segment element","Abnormal duodenum morphology","autopod endochondral element","flat bone","cartilaginous condensation phenotype","bone of pectoral complex","camera-type eye physiology phenotype","skeleton of upper jaw phenotype","subdivision of digestive tract phenotype","dorsum","nervous system","Abnormal pelvic girdle bone morphology","hindlimb skeleton phenotype","decreased qualitatively reproductive process","digestive system morphology phenotype","anatomical entity morphology in the heart phenotype","Abnormal external genitalia morphology","alimentary part of gastrointestinal system morphology phenotype","shape of longitudinal arch of pes phenotype","Abnormal digestive system morphology","manual digit phalanx endochondral element","small intestine","anatomical structure formation involved in morphogenesis phenotype","digestive tract","incomplete closing of the secondary palate","mesenchyme","ileum","optic cup morphology phenotype","anatomical projection phenotype","Abnormality of the skeletal system","Abnormal gastrointestinal tract morphology","intestine","female reproductive system phenotype","increased length of the skin of face","decreased functionality of the myocardium","male reproductive organ","intermediate mesoderm phenotype","intestine morphology phenotype","number of anatomical enitites of type reproductive organ phenotype","homeostasis of number of cells","subdivision of oviduct phenotype","Myelodysplasia","circulatory organ phenotype","Atrial septal defect","Meckel diverticulum","long bone","pelvic appendage phenotype","alimentary part of gastrointestinal system phenotype","sensory system phenotype","endocrine system","liver phenotype","Abnormality of the upper urinary tract","Abnormality of connective tissue","exocrine system","endoderm-derived structure phenotype","Abnormality of the liver","Abnormality of the nervous system","bodily fluid","internal genitalia phenotype","skin of body phenotype","Abnormal pinna morphology","long bone phenotype","motile cell","Abnormal spinal cord morphology","increased pigmentation in skin of body","arch of centrum of vertebra","absent sperm in the semen","foregut morphology phenotype","abdomen element phenotype","absent anatomical entity in the reproductive system","asymmetrically curved anatomical entity","endochondral element phenotype","limb segment phenotype","radius bone phenotype","embryonic cloaca morphology phenotype","endocrine gland","shape of uterus phenotype","Abnormality of the amniotic fluid","digestive system","Spinal dysraphism","lower respiratory tract","endoderm-derived structure","Aplasia/hypoplasia of the extremities","gland phenotype","abdomen element","bone of jaw phenotype","entire embryonic mesenchyme","hypospadia; hypospadias","enteric nervous system morphology","fused anatomical entity and anatomical entity","Abnormality of the digestive system","digit","cardiopharyngeal field","herniated abdominal wall","developmental process phenotype","digit 1 plus metapodial segment","pectoral appendage bud phenotype","increased size of the pelvic region element","reproductive system morphology phenotype","bone element phenotype","Recurrent infections","limb","pectoral appendage","Cranial nerve paralysis","Abnormality of the lower limb","decreased system process","incomplete closing of the septum","pectoral complex","pharyngeal arch morphology phenotype","cardiac ventricle phenotype","ocular adnexa phenotype","Abnormality of the male genitalia","multi-limb segment region phenotype","anatomical wall","manual digit 1 digitopodial skeleton","Abnormal esophagus morphology","neocortex","Abnormality of the abdominal organs","aplasia or hypoplasia of manual digit","cranial nerve related reflex","paired limb/fin segment phenotype","arm phenotype","abdominal segment element phenotype","anatomical entity morphology in the appendage girdle complex phenotype","pharyngeal arch 1 morphology phenotype","dermatocranium phenotype","skeleton of digitopodium","decreased biological_process in multicellular organism","morphological feature phenotype","Abnormal atrial septum morphology","Abnormal appendicular skeleton morphology","Facial asymmetry","zone of bone organ","skeletal element","cerebral cortex phenotype","cerebrospinal fluid morphology phenotype","internal female genitalia","decreased number of cell","anatomical entity morphology in the manus phenotype","surface structure phenotype","nerve","endochondral bone","Cleft palate","weight loss","bodily fluid phenotype","forelimb bone phenotype","shape of eyelid phenotype","anterior region of body","subdivision of head phenotype","sclerotome morphology phenotype","embryo development rate phenotype","gray matter","epithelium development","decreased number of leukocyte in the blood","eye movement phenotype","limb bud phenotype","eyeball of camera-type eye phenotype","testis","paired limb/fin bud phenotype","voluntary movement behavior","erythroid lineage cell","limb bud morphology phenotype","femur morphology phenotype","hematopoietic system phenotype","left cardiac chamber phenotype","Abnormality of the genital system","Abnormality of the musculoskeletal system","manus","embryonic autopod plate morphology phenotype","phalanx","cell phenotype","Abnormal joint morphology","decreased length of endochondral element","forelimb bud morphology phenotype","peripheral nervous system phenotype","absent sperm","ocular adnexa","immune system","upper urinary tract phenotype","manual digit 1 or 5","Abnormal lens morphology","migrating mesenchyme population","appendicular skeletal system","regional part of nervous system phenotype","blood vessel morphology phenotype","autopodial extension","exocrine gland","ecto-epithelium phenotype","face morphology phenotype","increased number of anatomical entity in the cerebrospinal fluid","camera-type eye phenotype","cardiac ventricle","mandibular prominence","digit plus metapodial segment","non-material anatomical boundary","myocardium","appendage","endochondral element","skeletal joint morphology phenotype","bone element","subdivision of organism along appendicular axis","anatomical space","decreased number of anatomical entity in the multicellular organism","blood cell phenotype","neuroectoderm","subdivision of skeleton phenotype","primary subdivision of skull","appendicular skeleton phenotype","appendage girdle complex","male urethra","manual digitopodium region","manual digit digitopodial skeleton","synovial joint morphology phenotype","proximo-distal subdivision of respiratory tract","intramembranous bone phenotype","dense mesenchyme tissue","subdivision of tube phenotype","incomplete closing of the arterial blood vessel","sense organ physiology phenotype","surface structure","posterior nasal aperture","manual digit 1 morphology phenotype","Abnormal nasal morphology","Abnormal skeletal morphology","increased size of the mesoderm-derived structure","Abnormality of the hand","bone of appendage girdle complex phenotype","Abnormality of the ear","bone of hip region","increased size of the immaterial anatomical entity","neurectoderm phenotype","ear","Abnormal renal physiology","appendicular skeleton morphology phenotype","pedal digit","Abnormal ileum morphology","male germ cell","longitudinal arch of pes","multi organ part structure","decreased number of material anatomical entity in the multicellular organism","anatomical system phenotype","dermal skeleton","alimentary part of gastrointestinal system","subdivision of skeletal system","anatomical entity morphology phenotype","prepuce of penis","optic vesicle phenotype","herniated anatomical entity","heart tube morphology phenotype","thoracic cavity element","endoderm of foregut","presumptive structure","endocrine gland phenotype","embryonic structure phenotype","blood","paired limb/fin segment","outflow tract of ventricle","skeletal element phenotype","Umbilical hernia","presumptive structure phenotype","lateral plate mesoderm","aorta","autopodial extension phenotype","semi-lunar valve morphology phenotype","bone of pelvic complex phenotype","increased size of the anatomical conduit","digestive system phenotype","multicellular organism morphology phenotype","decreased qualitatively system process","fused pedal digit and pedal digit","anatomical conduit phenotype","girdle bone/zone phenotype","anatomical collection","prepuce","developing mesenchymal condensation phenotype","cardiovascular system phenotype","deviation of digit towards the middle","sensory perception of mechanical stimulus","external genitalia","anatomical entity morphology in the pectoral complex phenotype","Craniofacial cleft","sensory perception phenotype","future central nervous system","embryo","outflow part of left ventricle","camera-type eye","bone of free limb or fin","Abnormal internal genitalia","Abnormal toe morphology","trunk region element","skin of head","primary circulatory organ","decreased multicellular organismal reproductive process","external genitalia morphology; external genitalia phenotype","aortic valve","hemolymphoid system","primary circulatory organ phenotype","neural plate","fused anatomical entity and pedal digit","Deviation of the hand or of fingers of the hand","limb endochondral element","paired limb/fin bud","decreased anatomical structure mass","increased size of the excretory tube","increased length of the anatomical entity","subdivision of organism along main body axis","outflow part of left ventricle morphology phenotype","germ layer morphology phenotype","Short stature","tissue phenotype","autopod bone phenotype","Deviation of the 5th finger","musculoskeletal system","epithelial tube phenotype","decreased size of the skeletal element","epicanthal fold","autopod region morphology phenotype","Abnormality iris morphology","erythroid lineage cell morphology phenotype","lateral plate mesoderm morphology phenotype","increased size of the anatomical entity","telencephalon phenotype","tube formation phenotype","skeleton","Abnormal aortic valve morphology","genitourinary system phenotype","pelvic appendage","multi-tissue structure phenotype","immune system process","heart primordium","Abnormal cellular immune system morphology","systemic artery morphology phenotype","trunk","sense organ","anlage","pelvic girdle bone/zone morphology phenotype","sperm","Abnormality of the mouth","endochondral bone phenotype","autopod region","Abnormal cardiac septum morphology","Hypopigmented skin patches","organ part phenotype","circulatory system phenotype","iris phenotype","male gamete generation phenotype","hepatobiliary system phenotype","anatomical system","viscus","cardiovascular system morphology phenotype","bone of pectoral complex phenotype","metabolic process","sexual reproduction","Abnormal heart morphology","colon morphology phenotype","epithelium phenotype","anatomical entity morphology in the brain phenotype","manual digit phenotype","entity","Hypopigmentation of the skin","anus phenotype","herniated umbilical cord","digestive system gland phenotype","internal female genitalia morphology phenotype","anatomical wall phenotype","respiratory airway","material entity","splanchnic layer of lateral plate mesoderm","voluntary musculoskeletal movement","anatomical structure mass phenotype","multi-tissue structure","thoracic segment organ","Abnormal ureter morphology","anatomical conduit","neuron projection bundle phenotype","Weight loss","forelimb skeleton","vertebra","mesoderm-derived structure","simple eye","organism subdivision","viscus phenotype","anatomical conduit atresia","subdivision of trunk phenotype","leg phenotype","pigmentation phenotype","endoderm","abdominal wall phenotype","Oligohydramnios","digestive system gland","size of anatomical entity phenotype","Abnormal aortic morphology","incomplete closing of the multi-tissue structure","anatomical structure","strabismus","Abnormality of the cardiovascular system","olfactory system","decreased multicellular organism development","fused digit and digit","increased size of the zone of skin","Abnormality of the palpebral fissures","forelimb long bone","non-connected functional system","Hearing impairment","splanchnic layer of lateral plate mesoderm phenotype","abdomen","developing anatomical structure phenotype","subdivision of digestive tract","lateral structure","large intestine morphology phenotype","pectoral appendage bud","asymmetry of face phenotype","size of head phenotype","involuntary movement behavior","increased number of ventricle of nervous system","mesenchyme phenotype","outflow tract phenotype","skeletal system morphology phenotype","spermatogenesis","subdivision of organism along main body axis phenotype","Abnormal forebrain morphology","cardiogenic plate morphology phenotype","Abnormal enteric nervous system morphology","blood vessel","orbital region","limb skeleton subdivision","appendage girdle region phenotype","skeleton of pectoral complex","vessel phenotype","skeletal joint phenotype","vasculature of organ","manual digit morphology in the manus phenotype","left cardiac chamber","Abnormal hip bone morphology","heart primordium phenotype","skeleton of limb phenotype","manual digit 1 phalanx endochondral element","outflow tract of ventricle phenotype","Triphalangeal thumb","arm","decreased size of the bone of appendage girdle complex","valve phenotype","female reproductive system morphology phenotype","decreased functionality of the multicellular anatomical structure","anatomical collection phenotype","trunk phenotype","digit 5 plus metapodial segment","Abnormal cardiovascular system morphology","soft palate","epithelium","lower digestive tract","eye primordium phenotype","Abnormality of the kidney","digitopodium bone","tracheobronchial tree morphology phenotype","eye physiology phenotype","anatomical line phenotype","nervous system development","cardiogenic splanchnic mesoderm morphology phenotype","organ","arterial blood vessel","phenotypic effect","anatomical structure phenotype","reproductive organ","Abnormal male external genitalia morphology","male reproductive system morphology phenotype","hematopoietic system","urogenital fold morphology phenotype","Phenotypic abnormality","testis phenotype","great vessel of heart phenotype","decreased functionality of the reproductive structure","organism substance","vasculature of organ phenotype","organ component layer physiology phenotype","jaw region","developing anatomical structure","disconnected anatomical group","neural crest-derived structure","trunk region element physiology phenotype","upper limb segment phenotype","Abnormal brain morphology","cardiovascular system","limb bone","eye phenotype","organ component layer phenotype","eye primordium","cardiac atrium phenotype","animal gross anatomical part developmental process","gray matter phenotype","kidney physiology phenotype","multicellular organism","Aplasia/Hypoplasia of the testes","mandible","tetrapod frontal bone morphology phenotype","cornea morphology phenotype","absent anatomical entity","autonomic nervous system morphology phenotype","embryonic tissue","Hearing abnormality","cerebral hemisphere morphology phenotype","increased number of brain ventricle in the cerebrospinal fluid","Abnormal limb bone morphology","reproductive process","male reproductive organ physiology phenotype","cardiac chamber phenotype","skeleton phenotype","deviation of manual digit 5","semi-lunar valve","internal male genitalia","increased height of the material anatomical entity","skeleton of lower jaw phenotype","nucleate cell","increased size of the anatomical line","forelimb bud","forelimb","lateral structure phenotype","respiratory system phenotype","protruding eyeball of camera-type eye","cardiogenic splanchnic mesoderm phenotype","decreased spermatogenesis","decreased size of the anatomical conduit","number of anatomical enitites of type reproductive structure phenotype","increased number of organ part","exocrine gland phenotype","multicellular anatomical structure phenotype","incomplete closing of the organ","phenotype","pharyngeal arch system","material anatomical entity atresia","heart tube phenotype","semen","upper eyelid","absent material anatomical entity","Abnormality of the female genitalia","lateral plate mesoderm phenotype","epithelial tube","anatomical entity phenotype","subdivision of skeleton","structure with developmental contribution from neural crest","reproductive structure phenotype","Abnormal neural tube morphology","material anatomical entity","transparent eye structure","Abnormality of blood and blood-forming tissues","epithelial tube morphogenesis","venous blood vessel","Abnormal ventriculoarterial connection","Abnormal palate morphology","heart layer","shape of external ear phenotype","immune system physiology phenotype","Eumetazoa","unilaminar epithelium","Bicornuate uterus","decreased size of the multicellular anatomical structure in the pectoral complex","limb segment","paired limb/fin","forelimb endochondral element","gross anatomical part","neocortex morphology phenotype","manus phenotype","Renal insufficiency","myocardium morphology phenotype","cardiac ventricle morphology phenotype","primary heart field","anterior uvea","decreased qualitatively sensory perception of sound","germ cell","organ subunit","gamete generation phenotype","epithelial tube formation","small intestine phenotype","male reproductive organ morphology phenotype","body proper","hindlimb bone","urethra","head mesenchyme","heart phenotype","aortic valve morphology phenotype","blood phenotype","radius bone","respiratory tube phenotype","digit 1 or 5","bone of lower jaw phenotype","internal female genitalia phenotype","absent material anatomical entity in the multicellular organism","pes","neural tube development","embryo phenotype","cardiac chamber","ulna endochondral element","All","subdivision of head","mesoderm phenotype","aplasia or hypoplasia of uvea","chordate embryonic development","cranium","bone of appendage girdle complex","Absent testis","mesoderm-derived structure phenotype","trunk region element phenotype","skeletal system physiology phenotype","endo-epithelium phenotype","embryonic epithelial tube formation","manual digit plus metapodial segment","continuant","3-D shape anatomical entity","systemic arterial system","Abnormality of skull size","multicellular organism mass phenotype","malformed material anatomical entity","protuberance","digestive system element","heart","Megacolon","erythrocyte differentiation","primordium","compound organ","meso-epithelium phenotype","systemic artery phenotype","pedal digit bone","Frontal bossing","large intestine","Dolichocephaly","manual digit 1 plus metapodial segment","arm bone","incomplete closing of the interatrial septum","upper limb segment","increased number of multicellular anatomical structure in the cerebrospinal fluid","thoracic segment organ phenotype","Abnormal cardiac atrium morphology","Abnormality of the uterus","valve","somite","decreased size of the multicellular anatomical structure","pedal digit phalanx endochondral element","forelimb zeugopod bone phenotype","hypothalamus-pituitary axis","gastrula","Abnormality of the eye","Duodenal stenosis","malformed multicellular anatomical structure","Abnormality of limb bone","lower limb segment","limb morphology phenotype","occurrent","paired limb/fin phenotype","anatomical entity dysfunction in independent continuant","limb phenotype","primitive urogenital sinus morphology phenotype","increased size of the ureter","embryonic structure","anatomical entity","Abnormal blood vessel morphology","craniocervical region","Conotruncal defect","embryonic autopod plate","ureter","Abnormal finger morphology","pectoral appendage phenotype","anatomical cluster","head phenotype","hip joint morphology phenotype","pedal digitopodium region","aortic system","segment of manus","increased number of brain ventricle/choroid plexus","Abnormal skull morphology","peripheral nervous system","subdivision of trunk","respiratory tube","ectoderm phenotype","heart plus pericardium","serotonin secreting cell","optic vesicle","artery","anatomical entity morphology in the skeleton of pectoral complex phenotype","gastrula morphology phenotype","urethra phenotype","haemolymphatic fluid phenotype","Abnormal systemic arterial morphology","system development","anatomical structure morphogenesis","great vessel of heart","circulatory organ","vascular system","asymmetry of anatomical entity phenotype","increased height of the secondary palate","blood vessel phenotype","external anal region","embryonic craniocervical region","musculoskeletal system phenotype","visual system phenotype","organ system subdivision","great vessel of heart morphology phenotype","enteric ganglion","absent reproductive structure in the male reproductive system","segment of autopod","primordium phenotype","aorta morphology phenotype","ectoderm-derived structure phenotype","cornea, curved phenotype","integumental system","innominate bone morphology phenotype","trachea morphology phenotype","extraembryonic structure","acropodium region","cranial neuron projection bundle","Abnormal morphology of the great vessels","absent anatomical entity in the semen","facial bone phenotype","eyelid phenotype","outflow tract","undifferentiated genital tubercle morphology phenotype","erythrocyte morphology phenotype","vascular system morphology phenotype","cardiac septum morphology phenotype","multicellular anatomical structure","process","increased length of the organ part","colon phenotype","glandular system","mesoderm","neural tube","cardiogenic plate","Abnormality of the vasculature","excretory tube","subdivision of tube","germ line cell","glans","skeletal system phenotype","Abnormality of the gastrointestinal tract","cardiogenic splanchnic mesoderm","cerebrospinal fluid","developmental process involved in reproduction phenotype","anatomical cavity phenotype","vessel","central nervous system gray matter layer","vasculature phenotype","hindlimb joint phenotype","dense mesenchyme tissue phenotype","vasculature","Abnormality of limbs","cavitated compound organ","arterial system","embryonic cloacal fold morphology phenotype","sensory system","head morphology phenotype","pectoral appendage skeleton phenotype","ectoderm-derived structure","vein phenotype","sorocarp development","hypothalamus-pituitary axis phenotype","cloaca","multicellular organismal reproductive process phenotype","heart morphology phenotype","duodenum morphology phenotype","zone of skin morphology phenotype","ureter phenotype","Abnormal ear morphology","Short long bone","organism subdivision phenotype","main body axis","Abnormality of the hypothalamus-pituitary axis","neurocranium","endocrine system phenotype","blood vasculature","olfactory organ phenotype","deviation of manual digit","appendicular skeleton","limb skeleton subdivision phenotype","paired limb/fin skeleton phenotype","external male genitalia","forelimb phenotype","bone of free limb or fin phenotype","digit morphology phenotype","decreased qualitatively biological_process","musculature of body","musculature phenotype","digit 1","ventricular system of brain","hindlimb bud morphology phenotype","material anatomical entity phenotype","system","Abnormal soft palate morphology","limb bone phenotype","phalanx of pes phenotype","ulna hypoplasia","reflex phenotype","incomplete closing of the vessel","appendage phenotype","Abnormality of thrombocytes","Abnormal anus morphology","thoracic segment of trunk","male reproductive system","autopod region phenotype","interatrial septum","dermal skeleton phenotype","ear phenotype","Hypospadias","manual digit 1 phalanx","presumptive ectoderm","hepatobiliary system","skeleton of pedal acropodium","arch of centrum of vertebra phenotype","multicellular organism phenotype","simple eye phenotype","platelet morphology","limb bud","hindlimb bone phenotype","ecto-epithelium","anatomical entity morphology in the pelvic complex phenotype","eye","sense organ phenotype","Cataract","pre-chordal neural plate phenotype","leukocyte morphology phenotype","intestine phenotype","pre-chordal neural plate","integument phenotype","decreased qualitatively pigmentation","visual system","increased response to stimulus","prominent forehead","Abnormality of globe location","digestive system element phenotype","irregular bone","Decreased bone element mass density","pelvic appendage skeleton phenotype","decreased size of the subdivision of organism along main body axis","Azoospermia","digit phenotype","dilated colon","forelimb zeugopod bone hypoplasia","decreased anatomical structure development","forehead morphology phenotype","brain ventricle phenotype","musculature","mesoderm morphology phenotype","craniocervical region morphology phenotype","Eukaryota","immature eye","digit 5","eyelid","transudate","head","trunk mesenchyme phenotype","sensory perception of light stimulus phenotype","biological_process phenotype","manual digit 5 plus metapodial segment","foregut epithelium phenotype","renal/urinary system phenotype","digitopodium bone phenotype","decreased number of myeloid cell","asymmetrically curved cornea","visual perception phenotype","pelvic appendage bud phenotype","multicellular anatomical structure physiology phenotype","sclerotome","vision/eye phenotype","connective tissue","anatomical entity physiology phenotype","Abnormality of the outer ear","manual digit 1","lateral structure physiology phenotype","uvea morphology phenotype","decreased qualitatively anatomical structure development","ectoderm-derived structure physiology phenotype","Aplasia/Hypoplasia of the ulna","increased size of the anatomical structure","decreased length of material anatomical entity","neural plate morphology phenotype","sensory perception of light stimulus","secondary palate","simple eye physiology phenotype","organ physiology phenotype","structure with developmental contribution from neural crest phenotype","visual perception","palpebral fissure","hindlimb bud","multicellular anatomical structure, asymmetrically curved phenotype","multicellular organismal process","anatomical structure physiology phenotype","nervous system process","increased size of the multicellular anatomical structure","decreased length of endochondral bone","structure with developmental contribution from neural crest physiology phenotype","localised anatomical entity","Abnormal eye physiology","Abnormality of vision","biological_process","immune system morphology phenotype","hemopoiesis","orifice phenotype","system process","embryo development phenotype","optic cup","digit 1 phenotype","number of anatomical enitites of type anatomical structure phenotype","bicornuate uterus","renal system morphology phenotype","decreased length of multicellular anatomical structure","concave 3-D shape anatomical entity","bicornuate anatomical entity","clavate digit","segment of pes","shape of anatomical entity phenotype","leukocyte","uterus morphology phenotype","mesenchyme morphology phenotype","shape of continuant phenotype","ear physiology phenotype","presumptive paraxial mesoderm","vestibulo-auditory system phenotype","increased length of the epicanthal fold","ectoderm-derived structure, curved phenotype","cardiac valve phenotype","renal system","Abnormality of movement","vasculature of trunk phenotype","sensory perception of sound","vestibulo-auditory system","external genitalia phenotype","Abnormality of the orbital region","paraxial mesoderm phenotype","incomplete closing of the anatomical wall","paired limb/fin skeleton","haemolymphatic fluid","anatomical structure development","Abnormality of the integument","zone of skin","dorsal region element phenotype","skin of face morphology phenotype","renal system physiology phenotype","skin of body","thoracic cavity blood vessel phenotype","decreased biological_process","Abnormal skin pigmentation","ventricular system of central nervous system","decreased size of the anatomical entity","cavitated compound organ phenotype","decreased biological_process in skin of body","proximo-distal subdivision of respiratory tract phenotype","material anatomical entity physiology phenotype","decreased pigmentation in skin of body","zone of organ phenotype","skin of body morphology phenotype","gland","integument","oligohydramnios","testis morphology phenotype","organ phenotype","tube phenotype","integumental system phenotype","multi-limb segment region","developmental process","skeleton of manual digitopodium","arterial blood vessel phenotype","organism substance phenotype","independent continuant","cardiac septum","decreased sensory perception","Abnormal uterus morphology","septum","cardiac septum phenotype","incomplete closing of the arch of centrum of vertebra","haploid cell","subdivision of skeletal system phenotype","incomplete closing of the anatomical entity","reproductive structure physiology phenotype","abdominal segment element physiology phenotype","ureter morphology phenotype","spina bifida","cartilaginous condensation","paraxial mesoderm","Abnormal vascular morphology","pelvic region element phenotype","decreased qualitatively nervous system process","presumptive paraxial mesoderm phenotype","cartilage element phenotype","skin of head morphology phenotype","increased number of organ component layer in the cerebrospinal fluid","vertebral element phenotype","layer of muscle tissue","cartilaginous neurocranium phenotype","Abnormal spermatogenesis","neural crest-derived structure phenotype","spinal cord morphology phenotype","Patent ductus arteriosus","spermatogenesis phenotype","external ectoderm","vertebral column phenotype","presomitic mesoderm","central nervous system","neural tube closure phenotype","telencephalon morphology phenotype","vertebra phenotype","Anemia of inadequate production","pharyngeal region of foregut","eyelid morphology phenotype","male gamete generation","paraxial mesoderm morphology phenotype","opening of the anatomical entity","cell condensation phenotype","tube closure phenotype","upper leg bone","closing of the material anatomical entity","migrating mesenchyme population phenotype","vertebral element","vertebral column morphology phenotype","developing mesenchymal condensation","neural tube phenotype","embryo morphology phenotype","germ layer / neural crest","neural tube closure","increased height of the roof of mouth","incomplete closing of the anatomical structure","platelet","irregular bone phenotype","biological_process rate phenotype","dorsal region element","cell condensation","decreased qualitatively sensory perception of light stimulus","pelvic region element","multicellular anatomical structure atresia","Abnormal oral cavity morphology","vertebral column","neural tube formation","musculoskeletal movement","primary neural tube formation","limb endochondral element phenotype","Abnormality of the immune system","Cardiomyopathy","incomplete closing of the skeletal element","Abnormal bone ossification","Abnormal axial skeleton morphology","sclerotome phenotype","anatomical structure formation involved in morphogenesis","incomplete closing of the heart blood vessel","posterior nasal aperture morphology phenotype","male gamete","tissue development","Neural tube defect","Aplasia/hypoplasia involving bones of the hand","presomitic mesoderm morphology phenotype","ductus arteriosus","circulatory system","system process phenotype","nervous system phenotype","postcranial axial skeletal system","neural tube morphology","nerve phenotype","nervous system morphology phenotype","Unusual infection by anatomical site","Abnormal skin morphology","presomitic mesoderm phenotype","absent multicellular anatomical structure in the male reproductive system","axial skeleton plus cranial skeleton morphology phenotype","embryo development","embryonic morphogenesis","tissue morphogenesis","tube morphogenesis","neurocranium phenotype","development of anatomical entity phenotype","epithelial vesicle","incomplete closing of the multicellular anatomical structure","trunk mesenchyme","central nervous system morphology phenotype","Aplasia/hypoplasia involving the skeleton","thoracic cavity element phenotype","multicellular organism development","tube development","number of anatomical enitites of type organ component layer phenotype","morphogenesis of embryonic epithelium","morphogenesis of an epithelium","Abnormal conjugate eye movement","eye movement","increased size of the trunk region element","reproductive system physiology phenotype","Joint dislocation","external ectoderm morphology phenotype","decreased functionality of the reproductive organ","reproductive organ physiology phenotype","socially cooperative development","skeleton of limb","organ system subdivision phenotype","gonad physiology phenotype","cranium morphology phenotype","head paraxial mesoderm morphology phenotype","internal male genitalia physiology phenotype","paralysed anatomical entity","Puberty and gonadal disorders","blood island phenotype","decreased number of anatomical entity","decreased functionality of the gonad","anatomical entity atresia","Abnormality of reproductive system physiology","decreased functionality of the anatomical entity","anus atresia","decreased functionality of the material anatomical entity","anatomical entity height phenotype","decreased functionality of the organ","cardiac valve morphology phenotype","nervous system process phenotype","aganglionic megacolon","forebrain morphology phenotype","enteric nervous system","central nervous system phenotype","autonomic nervous system","increased size of the colon","anatomical entity morphology in the alimentary part of gastrointestinal system phenotype","increased size of the subdivision of digestive tract","number of sperm phenotype","parasympathetic nervous system","colon","Macule","hindgut","increased size of the organ part","internal anal region","Abnormal autonomic nervous system morphology","organ part","embryo development ending in birth or egg hatching","decreased multicellular anatomical structure mass","taxon specific phenotype","digit 1 or 5 phenotype","gonad phenotype","epithelial vesicle phenotype","tube formation","Abnormality of the peripheral nervous system","hindgut phenotype","decreased size of the organism subdivision","Aganglionic megacolon","Abnormal enteric ganglion morphology","neural groove","spinal cord","autonomic nervous system phenotype","mouth phenotype","anlage phenotype","peripheral nervous system morphology phenotype","Abnormality of the ocular adnexa","dilated anatomical entity","eyeball of camera-type eye","ganglion","tracheoesophageal fistula","phalanx endochondral element","large intestine phenotype","hindgut morphology phenotype","increased size of the material anatomical entity","Abnormal cerebral ventricle morphology","parasympathetic ganglion","increased size of the subdivision of tube","pelvic appendage bud","Abnormal platelet morphology","Choanal atresia","hindlimb","organ component layer","anucleate cell","meso-epithelium","hindlimb morphology phenotype","hindlimb phenotype","Abnormal digit morphology","lower limb segment phenotype","forelimb zeugopod bone morphology phenotype","cell","hindlimb bud phenotype","nerve of head region","decreased size of the forelimb zeugopod bone","internal naris","incomplete closing of the ductus arteriosus","Abnormality of the urethra","posterior region of body","olfactory organ","pes phenotype","Abnormality of the autonomic nervous system","forelimb morphology phenotype","pes morphology phenotype","Abnormality of body weight","excretory system","cartilage element","Abnormal foot morphology","fused anatomical entity and digit","fused pedal digit and anatomical entity","decreased length of orifice","vasculature of central nervous system plus retina","pedal digit phenotype","fused digit and anatomical entity","Toe syndactyly","entire sense organ system","Syndactyly","pedal digit plus metapodial segment","increased length of the multicellular anatomical structure","increased size of the tube","upper urinary tract","mouth morphology phenotype","pelvic region of trunk","excretory tube phenotype","vein morphology phenotype","radius endochondral element","vault of skull phenotype","pigmentation","increased size of the organ","Hydroureter","cranial nerve physiology phenotype","Abnormality of the ureter","renal pelvis/ureter","cranial skeletal system phenotype","future central nervous system phenotype","olfactory system morphology phenotype","closing of the multicellular anatomical structure","closing of the anatomical structure","closing of the anatomical entity","decreased size of the endochondral bone","Abnormal choanae morphology","reflex","pelvic complex","naris","internal naris atresia","increased size of the multi-tissue structure","posterior nasal aperture phenotype","number of anatomical enitites of type multicellular anatomical structure phenotype","germ layer / neural crest phenotype","closing of the anatomical conduit","Localized skin lesion","nose phenotype","localised testis","Abnormal ear physiology","orifice","Finger clinodactyly","oviduct","orifice atresia","naris atresia","Abnormal heart valve morphology","nose","hindlimb long bone","naris phenotype","absent multicellular anatomical structure","Abnormality of the nose","posterior nasal aperture atresia","chemosensory system","decreased developmental process","ear morphology phenotype","decreased developmental process involved in reproduction","forelimb bud phenotype","Abnormal male reproductive system physiology","Morphological central nervous system abnormality","Abnormal connection of the cardiac segments","number of anatomical enitites of type anatomical entity phenotype","absent anatomical structure","bone ossification","Abnormal large intestine morphology","decreased qualitatively developmental process involved in reproduction","Abnormal long bone morphology","gamete phenotype","internal male genitalia phenotype","gamete","number of cell phenotype","manual digit 5 morphology phenotype","Abnormality of immune system physiology","abdominal segment of trunk","absent gamete","number of anatomical enitites of type material anatomical entity phenotype","drooping eyelid","male reproductive system physiology phenotype","Intellectual disability","decreased male gamete generation","manus morphology phenotype","primary heart field phenotype","multicellular organismal reproductive process","Functional abnormality of male internal genitalia","decreased reproductive process","absent germ cell","anatomical cluster phenotype","absent anatomical structure in the multicellular organism","bone structure","systemic artery","decreased qualitatively multicellular organismal reproductive process","germ layer","eukaryotic cell","musculature of body phenotype","developmental process involved in reproduction","material anatomical entity, asymmetrically curved phenotype","decreased gamete generation","anterior neural tube","skull phenotype","Abnormality of the urinary system physiology","decreased qualitatively developmental process","anterior lateral plate mesoderm","reproductive process phenotype","anatomical entity hypoplasia in face","liver","decreased functionality of the organ part","Abnormal ocular adnexa morphology","decreased functionality of the anatomical structure","gamete generation","Abnormal male urethral meatus morphology","Hypogonadism","developmental process rate phenotype","growth phenotype","membrane bone phenotype","embryonic tissue morphology phenotype","absent anatomical entity in the multicellular organism","limb long bone","decreased size of the multicellular organism","Clubbing of toes","septum phenotype","Decreased anatomical entity mass","multicellular anatomical structure mass phenotype","anatomical entity mass phenotype","Aplasia/Hypoplasia of fingers","somite phenotype","Decreased body weight","decreased size of the material anatomical entity","subdivision of organism along appendicular axis phenotype","Abnormality of the skin","growth","Decreased multicellular organism mass","gray matter of forebrain phenotype","Growth abnormality","decreased height of the multicellular organism","decreased material anatomical entity mass","external ear","decreased size of the bone element","ectoderm-derived structure atresia","Anal atresia","decreased size of the limb bone","germ layer phenotype","anus morphology phenotype","Abnormality of the anus","innominate bone","female reproductive organ phenotype","closing of the ectoderm-derived structure","decreased pigmentation in multicellular organism","internal naris phenotype","Congenital malformation of the great arteries","decreased length of long bone","immature eye phenotype","heart layer morphology phenotype","sloped forehead","Tetralogy of Fallot","external ear morphology phenotype","deviation of anatomical entity towards the middle","external ear phenotype","ganglion of peripheral nervous system","spatial pattern of anatomical entity phenotype","Abnormal intestine morphology","anatomical system physiology phenotype","shape of face phenotype","Pes planus","Abnormal facial shape","Abnormal small intestine morphology","immune system phenotype","Unusual infection","response to stimulus phenotype","Unusual genitourinary infection","Recurrent urinary tract infections","decreased number of anatomical structure in the multicellular organism","decreased number of hematopoietic cell","response to external stimulus phenotype","heart layer phenotype","increased reflex","phalanx of manus","number of hematopoietic cell phenotype","zeugopodial skeleton","increased size of the lateral structure","number of anatomical entities of type anatomical entity in blood phenotype","blood island","tube closure","decreased number of anatomical structure","decreased number of leukocyte","autonomic ganglion","Abnormal immune system morphology","Abnormal leukocyte count","Abnormality of the urinary system","number of leukocyte phenotype","Abnormality of the lower urinary tract","decreased number of anatomical entity in the blood","shape of forehead phenotype","deviation of manual digit 5 towards the middle","sloped anatomical entity","localised male reproductive organ","Abnormal forehead morphology","forehead","forehead phenotype","embryonic tissue phenotype","Sloping forehead","myocardium phenotype","layer of muscle tissue phenotype","heart left ventricle","Abnormal nervous system morphology","olfactory system phenotype","Hypertrophic cardiomyopathy"],"has_descendant":["MONDO:0013566","MONDO:0054748","MONDO:0010351","MONDO:0044325","MONDO:0009213","MONDO:0019391","MONDO:0009214","MONDO:0014986","MONDO:0012186","MONDO:0009215","MONDO:0010953","MONDO:0013499","MONDO:0014987","MONDO:0013565","MONDO:0979241","MONDO:0014638","MONDO:0012565","MONDO:0012187","MONDO:0011584","MONDO:0014108","MONDO:0013248","MONDO:0014985","MONDO:0011325"],"has_descendant_label":["Fanconi anemia complementation group L","Fanconi anemia, complementation group S","Fanconi anemia complementation group B","Fanconi anemia, complementation group W","Fanconi anemia complementation group C","Fanconi anemia","Fanconi anemia complementation group D2","Fanconi anemia complementation group R","Fanconi anemia complementation group I","Fanconi anemia complementation group A","Fanconi anemia complementation group E","Fanconi anemia complementation group P","Fanconi anemia complementation group U","Fanconi anemia complementation group G","fanconi anemia, complementation group 10","Fanconi anemia complementation group T","Fanconi anemia complementation group N","Fanconi anemia complementation group J","Fanconi anemia complementation group D1","Fanconi anemia complementation group Q","Fanconi anemia complementation group O","Fanconi anemia complementation group V","Fanconi anemia complementation group F"],"has_descendant_count":23,"score":null,"highlighting":{}},{"id":"MONDO:0018954","category":"biolink:Disease","name":"Loeys-Dietz syndrome","xref":["DOID:0050466","GARD:0010788","ICD9:759.89","MEDGEN:395827","MESH:D055947","NANDO:2200969","NCIT:C75006","NORD:91173","OMIMPS:609192","Orphanet:60030","SCTID:446263001","UMLS:C2697932"],"synonym":["Loeys-Dietz syndrome","aortic aneurysm syndrome due to TGF-beta receptors anomalies","aortic aneurysm syndrome, Loeys-Dietz type"],"full_name":null,"in_taxon":null,"in_taxon_label":null,"symbol":null,"file_source":"phenio_nodes","provided_by":"phenio_nodes","type":null,"description":"Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.","iri":null,"has_attribute":null,"has_biological_sex":null,"exact_synonym":["Loeys-Dietz syndrome","aortic aneurysm syndrome due to TGF-beta receptors anomalies"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["aortic aneurysm syndrome, Loeys-Dietz type"],"deprecated":null,"same_as":null,"subsets":["clingen","doid_rare","gard_rare","ncit_rare","nord_rare","ordo_disorder","ordo_malformation_syndrome","orphanet_rare","otar","rare"],"synonyms":null,"has_gene":null,"namespace":"MONDO","has_phenotype":["HP:0001363","HP:0001762","HP:0005116","HP:0004942","HP:0000963","HP:0002099","HP:0000193","HP:0000964","HP:0001382","HP:0000347","HP:0100490","HP:0000098","HP:0001373","HP:0000592","HP:0001695","HP:0005294","HP:0000272","HP:0410151","HP:0001166","HP:0000978","HP:0000987","HP:0001763","HP:0100718","HP:0002617","HP:0000202","HP:0001653","HP:0000768","HP:0001643","HP:0000316","HP:0000767","HP:0002647","HP:0000175","HP:0002650","HP:0000545","HP:0001892","HP:0001065","HP:0002108"],"has_phenotype_label":["Arachnodactyly","Cleft palate","Bifid uvula","Vascular dilatation","Joint hypermobility","Joint dislocation","Spontaneous pneumothorax","Pes planus","Tall stature","Asthma","Craniosynostosis","Orofacial cleft","Aortic aneurysm","Thin skin","Bruising susceptibility","Scoliosis","Eosinophilic infiltration of the esophagus","Striae distensae","Pectus carinatum","Micrognathia","Eczematoid dermatitis","Patent ductus arteriosus","Aortic dissection","Hypertelorism","Uterine rupture","Atypical scarring of skin","Mitral regurgitation","Camptodactyly of finger","Myopia","Pectus excavatum","Cardiac arrest","Blue sclerae","Arterial dissection","Talipes equinovarus","Abnormal bleeding","Malar flattening","Arterial 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length of tendon","decreased length of tissue","Abnormal tendon morphology","forelimb skeleton","bending of multicellular anatomical structure","Abnormal finger phalanx morphology","tendon phenotype","bending of organism subdivision","Interphalangeal joint contracture of finger","bent digit","manual digit bone","muscle organ morphology phenotype","decreased length of tendon attached to manual digit","muscle organ","muscle structure","decreased length of anatomical entity attached to manual digit","decreased length of tendon attached to digit","decreased length of tendon attached to forelimb joint","dense regular connective tissue phenotype","Limb joint contracture","bending of anatomical entity","Abnormality of the musculature","Finger joint contracture","Upper-limb joint contracture","decreased length of regular connective tissue","decreased length of anatomical entity","bending of material anatomical entity","interphalangeal joint of manus","phalanx of manus","digitopodium bone","manus bone","Abnormal skeletal muscle morphology","decreased length of connective tissue","autopodial skeleton","limb joint","synovial joint","acropodial skeleton","long bone","Abnormality of upper limb joint","Abnormal phalangeal joint morphology of the hand","decreased length of anatomical entity attached to forelimb joint","interphalangeal joint","manus joint","phalanx","phalanx endochondral element","manual digit phalanx endochondral element","forelimb bone","Flexion contracture of digit","decreased length of dense regular connective tissue","Joint contracture","bending of autopodial extension","autopod joint","synovial limb joint","manual digit digitopodial skeleton","limb long bone","autopod endochondral element","bone of pectoral complex","tendon","regular connective tissue phenotype","decreased size of the connective tissue","Camptodactyly","dense regular connective tissue","decreased length of anatomical entity attached to digit","esophagus phenotype","increased biological_process in alimentary part of gastrointestinal system","increased defense response in alimentary part of gastrointestinal system","alimentary part of gastrointestinal system morphology phenotype","Gastrointestinal inflammation","Abnormal esophagus morphology","Abnormal gastrointestinal tract morphology","paired limb/fin skeleton","lateral plate mesoderm","respiratory tract","surface structure phenotype","decreased length of dense connective tissue","Aplasia/Hypoplasia involving bones of the skull","endochondral bone","respiratory system","primary subdivision of cranial skeletal system phenotype","digestive tract","increased size of the digit","embryonic cardiovascular system","limb bud morphology phenotype","roof of mouth morphology phenotype","migrating mesenchyme population","systemic artery","skeletal joint morphology in the pectoral complex phenotype","autopodial extension","ecto-epithelium phenotype","lateral plate mesoderm phenotype","pleura morphology phenotype","endochondral element","subdivision of organism along appendicular axis","multi-limb segment region","shape of anatomical entity in pectoral complex phenotype","subdivision of oviduct","endochondral element phenotype","limb segment phenotype","shape of manual digit phenotype","appendicular skeleton morphology phenotype","Abnormal mitral valve physiology","system","autopod region phenotype","manus phenotype","digitopodium region","palatine uvula phenotype","tube","Abnormal heart valve physiology","increased height of the anatomical structure","pre-chordal neural plate phenotype","Abnormal limb bone morphology","Abnormal finger morphology","pectoral appendage phenotype","segment of autopod","upper limb segment","Abnormality of head or neck","heart tube","skeleton of limb phenotype","forelimb bud phenotype","neural crest-derived structure phenotype","digit phenotype","Abnormality of body height","Abnormal mandible morphology","zone of organ","primary subdivision of skull phenotype","neural crest morphology phenotype","skeleton of pectoral complex","vessel phenotype","pharyngeal arch 1 phenotype","epithelial fold","shape of anatomical entity phenotype","skeleton of upper jaw","skull phenotype","pharyngeal arch phenotype","appendage","soft palate morphology phenotype","Functional abnormality of the gastrointestinal tract","pes phenotype","paired limb/fin bud phenotype","pharyngeal region of foregut","decreased size of the anatomical structure","Vascular dilatation","aortic system","concave anatomical entity","cardiovascular system morphology phenotype","pharyngeal arch morphology phenotype","Abnormality of joint mobility","palatine uvula","Pes planus","roof of mouth","pharyngeal arch 1","pharyngeal arch","vault of skull phenotype","mandibular prominence morphology phenotype","neural crest-derived structure","facial skeleton morphology phenotype","decreased size of the tissue","Bifid uvula","midface phenotype","cell condensation","Abnormal palate morphology","anatomical entity morphology in the pectoral complex phenotype","neural fold morphology phenotype","Abnormal respiratory system morphology","midface morphology phenotype","Inflammatory abnormality of the skin","anatomical entity hypoplasia","arm","Craniosynostosis","morphological feature","hindlimb phenotype","shape of sternum phenotype","jugal bone","location of eyeball of camera-type eye phenotype","endoderm phenotype","multicellular organism phenotype","cheek phenotype","pectoral appendage bud","sensory system phenotype","disconnected anatomical group","Abnormal sclera morphology","primary subdivision of skull","appendicular skeleton phenotype","Abnormality of cranial sutures","protruding anatomical entity","cardiovascular system","ecto-epithelium","anatomical entity morphology in the pelvic complex phenotype","Abnormal appendicular skeleton morphology","morphological feature phenotype","subdivision of skeleton phenotype","neuroectoderm","increased response to stimulus in skin of body","eye primordium","organ component layer phenotype","Abnormal eye morphology","organ part physiology phenotype","ectoderm-derived structure phenotype","integumental system","anatomical cluster phenotype","aorta morphology phenotype","bone element","skeletal joint morphology phenotype","decreased size of the organ part","camera-type eye morphology phenotype","digit morphology phenotype","neural fold","eye morphology","Blue sclerae","manual digit","skull morphology phenotype","eye primordium phenotype","sclera phenotype","slender manual digit","dermatocranium","Asthma","entire sense organ system","non-connected functional system","cranial skeletal system phenotype","future central nervous system phenotype","Arrhythmia","embryonic autopod plate morphology phenotype","manus","tunica fibrosa of eyeball","Spontaneous pneumothorax","skeletal element","bone of free limb or fin","camera-type eye","increased height of the multicellular anatomical structure","pectoral appendage skeleton","skeleton of lower jaw","sclerotome","vision/eye phenotype","gastrula morphology phenotype","jaw skeleton","optic vesicle phenotype","circulatory disorder","anatomical cluster","cheek morphology phenotype","anatomical projection","Vascular tortuosity","decreased length of material anatomical entity","neural plate morphology phenotype","neurocranium bone phenotype","vasculature of organ phenotype","flat anatomical entity","mandible morphology phenotype","ectoderm","organ component layer","hindlimb","palatine uvula morphology phenotype","Abnormal bleeding","Malar flattening","visual system","pathological phenotype observation","hematopoietic system","appendage girdle complex","hemorrhage and non-specified extravasation","decreased length of anatomical structure","mitral regurgitation; mitral valve regurgitation","great vessel of heart","growth phenotype","size of multicellular organism phenotype","Abnormal uvula morphology","increased size of the material anatomical entity","limb endochondral element","paired limb/fin bud","neural plate","increased size of the multicellular anatomical structure","increased size of the multicellular organism","anatomical cavity","increased size of the anatomical entity","lateral plate mesoderm morphology phenotype","skeleton of limb","organ system subdivision phenotype","multicellular organism height phenotype","subdivision of head","All","increased height of the multicellular organism","internal genitalia","trunk","Abnormal respiratory system physiology","serous sac","multi organ part structure phenotype","presumptive ectoderm phenotype","articulation phenotype","limb segment","paired limb/fin","forelimb endochondral element","gross anatomical part","simple eye phenotype","Abnormal midface morphology","neurectoderm phenotype","increased size of the immaterial anatomical entity","skeleton of manual acropodium","articular system","Abnormality of the hand","skeletal joint","hematopoietic system phenotype","left cardiac chamber phenotype","anatomical projection phenotype","Abnormality of the skeletal system","optic cup morphology phenotype","musculoskeletal system","mandible phenotype","skeletal joint dislocation","cranial skeletal system","limb skeleton subdivision phenotype","appendicular skeleton","location of anatomical entity phenotype","skeletal system morphology phenotype","articulation","mandible hypoplasia","oral cavity morphology phenotype","cellular organisms","neural crest phenotype","tissue phenotype","tissue","anatomical system phenotype","skeleton of manus","lower jaw region","respiratory system morphology phenotype","skeleton","protruding sternum","anatomical entity morphology phenotype","heart contraction","Arterial tortuosity","head bone phenotype","limb bone","eye phenotype","rib skeletal system","anatomical line","increased length of the anatomical entity","subdivision of organism along main body axis","germ layer morphology phenotype","anatomical space phenotype","proximo-distal subdivision of respiratory tract phenotype","material anatomical entity physiology phenotype","craniofacial suture","multicellular organism morphology phenotype","digestive system phenotype","maxillary prominence","germ layer","epithelial fold phenotype","Abnormality of the head","face phenotype","defense response phenotype","muscle structure phenotype","increased length of the multicellular anatomical structure","appendicular skeletal system","blood vessel morphology phenotype","pre-chordal neural plate","bone element hypoplasia in face","Abnormality of connective tissue","chest morphology phenotype","trunk region element","presumptive structure phenotype","non-material anatomical boundary","anatomical structure physiology phenotype","limb bone phenotype","Abnormal soft palate morphology","foregut","facial skeleton","digestive system morphology phenotype","thoracic skeleton","ectoderm phenotype","subdivision of trunk","material anatomical entity phenotype","compound organ phenotype","serous membrane phenotype","craniocervical region phenotype","skeleton of upper jaw phenotype","subdivision of digestive tract phenotype","sclera","Aplasia/Hypoplasia of the skin","pleura phenotype","immature eye","independent continuant","phenotype","embryonic autopod plate","pneumothorax","multi-tissue structure","thoracic segment organ","anatomical conduit","gastrula","Abnormality of the eye","sense organ phenotype","eye","craniofacial suture phenotype","Patent ductus arteriosus","pleura","anatomical wall phenotype","internal female genitalia morphology phenotype","pathological entity","embryonic structure phenotype","cranial bone","germ layer phenotype","epithelium phenotype","segment of manus","nonsynovial joint","incomplete closing of the thoracic segment blood vessel","structure with developmental contribution from neural crest physiology phenotype","compound organ","primordium","viscus","ectoderm-derived structure","sensory system","axial skeleton plus cranial skeleton morphology phenotype","biological_process phenotype","oral cavity","head morphology phenotype","Abnormal skeletal morphology","external soft tissue zone phenotype","increased response to stress in skin of body","serous membrane","head phenotype","zone of organ phenotype","skin of body morphology phenotype","limb bud","Growth abnormality","manual digitopodium region","subdivision of head phenotype","anterior region of body","anatomical system","organ part phenotype","circulatory system phenotype","cleft palatine uvula","unilaminar epithelium","multi-tissue structure phenotype","skeleton phenotype","Orofacial cleft","process","multicellular anatomical structure","subdivision of trunk phenotype","subdivision of organism along main body axis phenotype","Scarring","dermal bone phenotype","anatomical entity dislocation","lung","dentary phenotype","lung phenotype","ectoderm morphology phenotype","neural crest","neural groove phenotype","Talipes equinovarus","digestive tract epithelium phenotype","cardiovascular system physiology phenotype","Abnormal elasticity of skin","neurocranium phenotype","Long fingers","Abnormality of the respiratory system","soft palate","epithelium","thoracic cavity element","subdivision of skeleton","anatomical entity phenotype","continuant","3-D shape anatomical entity","Flexion contracture of finger","lung morphology phenotype","incomplete closing of the material anatomical entity","respiratory system morphology","female reproductive system","decreased size of the anatomical entity","primordium phenotype","skin of body physiology phenotype","coronary vessel morphology phenotype","body proper","uterus phenotype","multicellular anatomical structure phenotype","orbit of skull morphology phenotype","decreased size of the multicellular anatomical structure","somite","Thin skin","Aplasia/Hypoplasia of the mandible","incomplete closing of the blood vessel","reproductive system","forelimb phenotype","bone of free limb or fin phenotype","mouth morphology phenotype","Opisthokonta","foregut phenotype","skeletal system","dermal bone","embryonic tissue","mesenchyme phenotype","premature skeletal joint closure","Metazoa","limb bone morphology phenotype","presumptive structure","endoderm of foregut","trunk phenotype","Abnormal cardiovascular system morphology","female reproductive system morphology phenotype","anatomical collection phenotype","foregut epithelium","increased length of the organism subdivision","future nervous system","immature eye phenotype","Aplasia/hypoplasia involving the skeleton","thoracic cavity element phenotype","cartilaginous neurocranium phenotype","bone of appendage girdle complex","Micrognathia","trunk region element phenotype","tendon morphology phenotype","manual digit morphology in the manus phenotype","skeletal joint phenotype","vasculature of organ","mesoderm-derived structure phenotype","Dermal atrophy","respiration organ","organ","external soft tissue zone","foregut morphology phenotype","visual system phenotype","organ system subdivision","immaterial anatomical entity","neural plate phenotype","axial skeleton plus cranial skeleton phenotype","developing anatomical structure phenotype","subdivision of digestive tract","lateral structure","incomplete closing of the artery","mesoderm-derived structure","anatomical structure phenotype","Abnormality of immune system physiology","face","increased number of material anatomical entity","root","foregut epithelium phenotype","immaterial entity","skeletal element phenotype","developmental and structural abnormality","digestive system","response to stress","heart process","Abnormality of limbs","anatomical conduit phenotype","increased size of the thoracic cavity blood vessel","manual digit phenotype","subdivision of organism along appendicular axis phenotype","Abnormality of the skin","growth","entity","immaterial anatomical entity phenotype","orbit of skull","pair of lungs","skin of body","Atypical scarring of skin","shape of palatine uvula phenotype","decreased size of the material anatomical entity","unilaminar epithelium phenotype","vault of skull","Eczematoid dermatitis","organ part","endoderm","size of anatomical entity phenotype","bone of lower jaw phenotype","internal female genitalia phenotype","Flexion contracture","Hypertelorism","increased number of anatomical entity in the blood vessel","increased length of the immaterial anatomical entity","Localized skin lesion","future central nervous system","embryo","anterior lateral plate mesoderm","lower respiratory tract","endoderm-derived structure","presumptive ectoderm","simple eye","pleural sac","premature anatomical entity closure","orbital region","limb skeleton subdivision","cheek","blood vessel","developing anatomical structure","jaw region","Phenotypic abnormality","organ phenotype","tube phenotype","integumental system phenotype","endoderm-derived structure phenotype","Eukaryota","main body axis","Lack of skin elasticity","sclera morphology phenotype","respiratory system physiology phenotype","Abnormality of blood and blood-forming tissues","Abnormal lung morphology","subdivision of tube","phenotypic effect","arterial blood vessel","sense organ","anlage","increased number of anatomical structure in the blood vessel","axial skeletal system","multicellular organism","neural groove","integument phenotype","thoracic cavity blood vessel phenotype","Arachnodactyly","aorta phenotype","thoracic segment of trunk","embryo phenotype","cardiac chamber","embryonic tissue phenotype","optic vesicle","circulatory system process","heart plus pericardium","thoracic segment organ phenotype","Cardiac arrest","Abnormal skull morphology","Pneumothorax","left cardiac chamber","anatomical space","limb phenotype","heart primordium","immune system process","embryonic structure","anatomical entity","skull","cell condensation phenotype","decreased size of the structure with developmental contribution from neural crest","anatomical wall","skin of body phenotype","internal genitalia phenotype","bending of anatomical structure","anatomical system physiology phenotype","cardiovascular system phenotype","skin of body atrophy","Abnormality of the integument","mandibular prominence","digit plus metapodial segment","camera-type eye phenotype","Abnormal cardiovascular system physiology","multicellular organismal process","dense connective tissue phenotype","joint contracture","increased length of the autopodial extension","clavate anatomical entity","facial skeleton phenotype","neural crest-derived structure physiology phenotype","material anatomical entity","endo-epithelium","multicellular anatomical structure atrophy","dense mesenchyme tissue phenotype","bone of appendage girdle complex phenotype","material anatomical entity atrophy","heart tube morphology phenotype","orbital region phenotype","Abnormality of the upper limb","anatomical structure morphology in the heart phenotype","increased size of the anatomical structure","anatomical entity atrophy","ectoderm-derived structure physiology phenotype","structure with developmental contribution from neural crest","aplasia or hypoplasia of anatomical entity","autopod region morphology phenotype","circulatory system","ductus arteriosus","forelimb joint","decreased size of the organ","Abnormality of the vertebral column","secondary palate morphology phenotype","postcranial axial skeletal system","Scoliosis","musculoskeletal system phenotype","embryonic craniocervical region","irregular bone phenotype","mouth","nonsynovial joint phenotype","endo-epithelium phenotype","structure with developmental contribution from neural crest phenotype","Bruising susceptibility","increased immune response","anatomical entity height phenotype","organism subdivision","oral cleft; orofacial cleft","Abnormal joint morphology","forelimb bud morphology phenotype","immune system","musculature phenotype","Abnormal oral morphology","Abnormal pleura morphology","cardiac atrium phenotype","Gastrointestinal eosinophilia","craniofacial/craniocervical phenotype","oral cavity phenotype","Craniofacial cleft","vertebral column","Abnormal oral cavity morphology","individual digit of digitopodial skeleton","upper jaw region","increased number of organ in the blood vessel","Tall stature","organ atrophy","craniocervical region","Abnormal blood vessel morphology","head","trunk mesenchyme phenotype","musculature of body","anatomical entity physiology phenotype","connective tissue","paired limb/fin phenotype","primary heart field phenotype","manus morphology phenotype","blood vessel phenotype","increased number of material anatomical entity in the blood vessel","great vessel of heart morphology phenotype","musculature of body phenotype","limb bud phenotype","eyeball of camera-type eye phenotype","connective tissue phenotype","pathological anatomical entity","paraxial mesoderm phenotype","Abnormality of the cardiovascular system","shape of digit phenotype","endoderm of foregut phenotype","biological_process","multi-limb segment region phenotype","anatomical collection","developing mesenchymal condensation phenotype","integument","cleft anatomical entity","blood circulation","heart morphology phenotype","protuberance phenotype","occurrent","orifice phenotype","system process","genitourinary system phenotype","pelvic appendage","preorbital bone region","optic cup","number of anatomical enitites of type anatomical structure phenotype","decreased thickness of the anatomical entity","sclerotome morphology phenotype","decreased thickness of the skin of body","acropodium region","increased size of the manual digit","Eosinophilic infiltration of the esophagus","anatomical entity length phenotype","increased length of the material anatomical entity","multi organ part structure","longitudinal arch of pes","anatomical entity morphology in the appendage girdle complex phenotype","biological_process rate phenotype","increased length of the anatomical structure","lower limb segment","limb morphology phenotype","Abnormality of limb bone","Abnormality of digestive system physiology","arm phenotype","paired limb/fin skeleton phenotype","autopod region","Abnormality of the mouth","endochondral bone phenotype","increased number of multicellular anatomical structure","autopodial extension phenotype","paired limb/fin segment phenotype","increased size of the organism subdivision","anatomical junction phenotype","shape of continuant phenotype","mesenchyme morphology phenotype","mesoderm phenotype","cranium","atrioventricular valve regurgitation","slender anatomical entity","pectoral complex","pectoral appendage","Abnormality of the lower limb","limb","increased length of the manual digit","increased length of the digit","upper limb segment phenotype","increased defense response in skin of body","pectoral appendage bud phenotype","manual digit plus metapodial segment","digit","cardiopharyngeal field","organism subdivision phenotype","fibrous joint","Abnormality of the face","Abnormal calvaria morphology","bone of jaw phenotype","entire embryonic mesenchyme","mitral valve","paraxial mesoderm","Abnormal vascular morphology","Abnormal skin physiology","Joint contracture of the hand","presumptive paraxial mesoderm phenotype","Abnormal cranial suture/fontanelle morphology","neurocranium","cranial suture","fibrous joint phenotype","presumptive paraxial mesoderm","increased size of the autopodial extension","cranial suture phenotype","cartilaginous neurocranium","pelvic appendage bud phenotype","aplasia or hypoplasia of mandible","postcranial axial skeleton","systemic arterial system","axial skeleton plus cranial skeleton","head mesenchyme phenotype","anatomical entity hypoplasia in face","splanchnic layer of lateral plate mesoderm phenotype","dermal skeleton phenotype","skeleton of digitopodium","pharyngeal arch 1 morphology phenotype","dermatocranium phenotype","increased number of structure with developmental contribution from neural crest","protuberance","digestive system element","zygomatic arch hypoplasia","dense connective tissue","arterial system","neurocranium bone","Abnormal zygomatic bone morphology","multicellular anatomical structure morphology in the heart phenotype","orifice","orbit of skull phenotype","increased response to stress in alimentary part of gastrointestinal system","facial bone","developing mesenchymal condensation","dermal skeletal element phenotype","facial bone phenotype","zygomatic arch phenotype","dermal skeletal element","jugal bone morphology phenotype","membrane bone","bone of craniocervical region","facial bone hypoplasia","taxon specific phenotype","epithelial vesicle phenotype","opening of the anatomical entity","primary subdivision of cranial skeletal system","alimentary part of gastrointestinal system","dermal skeleton","bone of craniocervical region phenotype","head bone morphology phenotype","hindlimb bud morphology phenotype","jugal bone phenotype","embryonic tissue morphology phenotype","membrane bone phenotype","cranial bone phenotype","limb endochondral element phenotype","Abnormality of the immune system","skeletal element of eye region","integumentary adnexa physiology phenotype","Abnormal facial skeleton morphology","incomplete closing of the systemic artery","aplasia or hypoplasia of skin of body","temporofacial region","multicellular anatomical structure physiology phenotype","skin vasculature morphology; vascular skin abnormality","integumentary adnexa phenotype","zone of skin","Cleft palate","skeletal joint mobility phenotype","anatomical entity morphology in the manus phenotype","superficial fascia","manual digitopodium bone","Vascular skin abnormality","vascular system","Generalized abnormality of skin","reproductive system phenotype","vascular system morphology phenotype","subcutaneous hemorrhage","Joint dislocation","external ectoderm morphology phenotype","embryo morphology phenotype","germ layer / neural crest","ecchymosis","zone of skin morphology phenotype","Abnormality of the vasculature","Subcutaneous hemorrhage","anatomical cavity phenotype","vessel","upper digestive tract","vasculature phenotype","vasculature","blood vasculature","valve phenotype","cardiac valve phenotype","endoderm morphology phenotype","response to stress phenotype","immune system process phenotype","heart primordium phenotype","Mitral regurgitation","cardiac valve physiology phenotype","meso-epithelium phenotype","mitral valve physiology phenotype","outflow tract phenotype","anatomical structure atrophy","heart","neural fold phenotype","Esophagitis","atrioventricular valve","primary circulatory organ","outflow part of left atrium","shape of longitudinal arch of pes phenotype","Abnormal digestive system morphology","cardiac chamber phenotype","trunk blood vessel","atrioventricular valve physiology phenotype","primary heart field","circulatory organ","epithelial tube phenotype","increased size of the aorta","outflow tract of atrium","circulatory organ phenotype","subdivision of oviduct phenotype","hemolymphoid system","primary circulatory organ phenotype","mouth phenotype","anlage phenotype","systemic artery morphology phenotype","Abnormal atrioventricular valve physiology","dilated aorta","outflow tract","respiratory system phenotype","cardiogenic splanchnic mesoderm phenotype","left cardiac atrium phenotype","anatomical junction","cardiac atrium","increased size of the blood vessel","pharyngeal arch system","heart tube phenotype","head mesenchyme","heart phenotype","Pectus excavatum","epithelial tube","skeletal system phenotype","Abnormality of the gastrointestinal tract","cardiogenic splanchnic mesoderm","left cardiac atrium","germ layer / neural crest phenotype","Abnormality of cardiovascular system electrophysiology","number of anatomical enitites of type multicellular anatomical structure phenotype","increased qualitatively inflammatory response","increased qualitatively response to stimulus","number of anatomical enitites of type organ phenotype","Eumetazoa","immune system physiology phenotype","Abnormality of the digestive system","number of anatomical enitites of type anatomical entity phenotype","increased biological_process in skin of body","muscle organ phenotype","increased number of anatomical entity","cell","increased inflammatory response in skin of body","Abnormal digit morphology","lower limb segment phenotype","immune system phenotype","Increased inflammatory response","oviduct","number of anatomical enitites of type material anatomical entity phenotype","number of anatomical enitites of type structure with developmental contribution from neural crest phenotype","forelimb long bone","Abnormal inflammatory response","increased qualitatively biological_process","Abnormal reproductive system morphology","inflammatory response phenotype","increased number of anatomical structure","organ physiology phenotype","increased inflammatory response","Atrioventricular valve regurgitation","response to stimulus","material anatomical entity morphology in the heart phenotype","inflammatory response","viscus phenotype","increased number of multicellular anatomical structure in the blood vessel","cell phenotype","response to stimulus phenotype","increased number of organ","blastula","increased number of skin of body in the blood vessel","Abnormality of the female genitalia","immune response phenotype","cardiogenic splanchnic mesoderm morphology phenotype","anatomical line phenotype","Immunologic hypersensitivity","increased immune system process","immune response","bone element phenotype","concave sternum","midface","thoracic rib cage morphology phenotype","chest phenotype","presomitic mesoderm","defense response","sternum phenotype","Slender finger","external ectoderm","vertebral column phenotype","skeletal joint physiology phenotype","postcranial axial skeleton phenotype","paraxial mesoderm morphology phenotype","migrating mesenchyme population phenotype","material entity","respiratory airway","splanchnic layer of lateral plate mesoderm","chest","conceptus","incomplete closing of the roof of mouth","somite phenotype","sternum","digestive tract epithelium","Myopia","Pectus carinatum","aplasia or hypoplasia of skeleton","thoracic rib cage","esophagus morphology phenotype","sternum morphology phenotype","Abnormal axial skeleton morphology","sclerotome phenotype","Abnormal thorax morphology","subdivision of tube phenotype","Abnormal sternum morphology","Camptodactyly of finger","presomitic mesoderm morphology phenotype","Abnormal skin morphology","presomitic mesoderm phenotype","epithelial vesicle","incomplete closing of the multicellular anatomical structure","trunk mesenchyme","lateral structure physiology phenotype","eye physiology phenotype","increased height of the material anatomical entity","skeleton of lower jaw phenotype","Abnormality of refraction","pes","secondary palate","simple eye physiology phenotype","increased skeletal joint mobility","Abnormal eye physiology","atrioventricular region","camera-type eye physiology phenotype","Positional foot deformity","pelvic appendage bud","hindlimb bud","meso-epithelium","hindlimb morphology phenotype","Aortic aneurysm","clavate autopod region","decreased length of multicellular anatomical structure","concave 3-D shape anatomical entity","structure with developmental contribution from neural crest atrophy","hindlimb bud phenotype","paired limb/fin segment","shape of autopod region phenotype","head bone","embryonic facial prominence","leg","leg phenotype","subdivision of skeletal system","Talipes","regular connective tissue","forelimb morphology phenotype","pes morphology phenotype","pelvic complex","Abnormal foot morphology","skeleton of manual digitopodium","arterial blood vessel phenotype","subdivision of skeletal system phenotype","incomplete closing of the anatomical entity","great vessel of heart phenotype","artery","thoracic segment blood vessel","increased length of the anatomical line between pupils","Striae distensae","ductus arteriosus morphology phenotype","posterior region of body","incomplete closing of the ductus arteriosus","heart blood vessel","Congenital malformation of the great arteries","vasculature of trunk phenotype","increased length of the anatomical line","trunk blood vessel phenotype","genitourinary system","incomplete closing of the heart blood vessel","incomplete closing of the anatomical conduit","mesoderm","cardiogenic plate","coronary vessel","Abnormality of the genitourinary system","incomplete closing of the anatomical structure","Abnormal morphology of the great vessels","cardiogenic plate morphology phenotype","increased size of the great vessel of heart","artery phenotype","zygomatic arch","Abnormal morphology of female internal genitalia","reproductive structure","incomplete closing of the trunk blood vessel","surface structure","sense organ physiology phenotype","incomplete closing of the arterial blood vessel","anatomical structure","incomplete closing of the multi-tissue structure","incomplete closing of the coronary vessel","artery morphology phenotype","Abnormality of the musculoskeletal system","Abnormality of the genital system","systemic artery phenotype","anatomical entity morphology in the heart phenotype","appendage phenotype","incomplete closing of the vessel","vasculature of trunk","curvature anatomical entity","flat longitudinal arch of pes","increased response to stimulus in alimentary part of gastrointestinal system","increased biological_process","flattened anatomical entity","mesenchyme","incomplete closing of the secondary palate","increased size of the non-material anatomical boundary","Abnormal joint physiology","face morphology phenotype","Abnormal musculoskeletal physiology","esophageal inflammation; esophagitis","Joint hypermobility","musculoskeletal system physiology phenotype","anatomical entity mobility phenotype","increased anatomical entity mobility","jaw skeleton morphology phenotype","multi organ part structure physiology phenotype","dentary","dense mesenchyme tissue","proximo-distal subdivision of respiratory tract","intramembranous bone phenotype","increased height of the anatomical entity","oral opening","intramembranous bone","Aplasia/hypoplasia affecting bones of the axial skeleton","integumentary adnexa","bone of jaw","Abnormal jaw morphology","mandible","bone of lower jaw","autopod bone","anatomical entity thickness phenotype","non-material anatomical boundary phenotype","forelimb bud","forelimb","lateral structure phenotype","increased size of the anatomical line","respiration organ phenotype","anatomical line between pupils","irregular bone","increased response to stimulus","digestive system element phenotype","Abnormality of globe location","increased length of the non-material anatomical boundary","decreased thickness of the sclera","Abnormal systemic arterial morphology","Arterial dissection","aorta","split aorta","thoracic cavity blood vessel","female reproductive organ","shape of aorta phenotype","Aortic dissection","cardiac valve","split anatomical entity","Abnormal aortic morphology","maxillary prominence morphology phenotype","dilated blood vessel","aortic aneurysm","increased size of the anatomical conduit","increased size of the vessel","pelvic appendage phenotype","increased size of the arterial blood vessel","dilated anatomical entity","valve physiology phenotype","aplasia or hypoplasia of skull","developmental or adult structural  defect","aneurysm","vertebral column morphology phenotype","Abnormal curvature of the vertebral column","scoliosis","internal female genitalia","Abnormal uterus morphology","female reproductive organ morphology phenotype","Abnormal internal genitalia","reproductive system morphology phenotype","Uterine rupture","female reproductive organ phenotype","oviduct phenotype","heart vasculature","reproductive organ phenotype","myopia","reproductive structure phenotype","reproductive organ","valve","Abnormality of the uterus","female organism phenotype","uterus morphology phenotype","female reproductive system phenotype","female organism","uterus","alimentary part of gastrointestinal system phenotype","esophagus","alimentary part of gastrointestinal system physiology phenotype","musculature","mesoderm morphology phenotype","craniocervical region morphology phenotype","increased inflammatory response in alimentary part of gastrointestinal system","eyeball of camera-type eye","digestive system physiology phenotype"],"has_descendant":["MONDO:0012212","MONDO:0018954","MONDO:0013897","MONDO:0013426","MONDO:0030500","MONDO:0012427","MONDO:0014262"],"has_descendant_label":["Loeys-Dietz syndrome 1","Loeys-Dietz syndrome","Loeys-Dietz syndrome 4","aneurysm-osteoarthritis syndrome","Loeys-Dietz syndrome 6","Loeys-Dietz syndrome 2","Rienhoff syndrome"],"has_descendant_count":7,"score":null,"highlighting":{}},{"id":"MONDO:0011518","category":"biolink:Disease","name":"Wiedemann-Steiner syndrome","xref":["GARD:0005565","MEDGEN:340266","MESH:C536704","NORD:150898","OMIM:605130","Orphanet:319182","UMLS:C1854630"],"synonym":["A syndrome of abnormal facies, short stature, and psychomotor retardation","WDSTS","Wiedemann Grosse Dibbern syndrome","Wiedemann-Steiner syndrome","hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"],"full_name":null,"in_taxon":null,"in_taxon_label":null,"symbol":null,"file_source":"phenio_nodes","provided_by":"phenio_nodes","type":null,"description":"Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.","iri":null,"has_attribute":null,"has_biological_sex":null,"exact_synonym":["Wiedemann-Steiner syndrome","hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["A syndrome of abnormal facies, short stature, and psychomotor retardation","WDSTS","Wiedemann Grosse Dibbern syndrome"],"deprecated":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","ordo_disorder","ordo_malformation_syndrome","orphanet_rare","otar","rare"],"synonyms":null,"has_gene":null,"namespace":"MONDO","has_phenotype":["HP:0000750","HP:0000752","HP:0000316","HP:0005616","HP:0000527","HP:0000733","HP:0000218","HP:0009803","HP:0000767","HP:0000252","HP:0001273","HP:0001252","HP:0030084","HP:0031623","HP:0100874","HP:0008905","HP:0000708","HP:0004780","HP:0000486","HP:0100581","HP:0000592","HP:0000268","HP:0000028","HP:0002750","HP:0000445","HP:0000574","HP:0001249","HP:0000506","HP:0000403","HP:0008897","HP:0000324","HP:0001508","HP:0000581","HP:0000664","HP:0002230","HP:0001382","HP:0007655","HP:0000347","HP:0001155","HP:0004554","HP:0000348","HP:0001631","HP:0000286","HP:0000455","HP:0011220","HP:0001831","HP:0003196","HP:0001847","HP:0000736","HP:0005819","HP:0002361","HP:0010485","HP:0000219","HP:0004322","HP:0200055","HP:0002000","HP:0000369","HP:0011968","HP:0002162","HP:0006712","HP:0000414","HP:0000508","HP:0000718","HP:0011298","HP:0001643","HP:0009697","HP:0012368","HP:0012745","HP:0004691","HP:0000437","HP:0002263","HP:0000465","HP:0001263","HP:0000824","HP:0001763","HP:0002015","HP:0007933","HP:0002019","HP:0000739","HP:0002650","HP:0009237","HP:0000960","HP:0000343","HP:0045025","HP:0001511","HP:0000744","HP:0000311","HP:0002360","HP:0000637","HP:0000494","HP:0009811","HP:0001182","HP:0002136","HP:0000668","HP:0002194","HP:0004540","HP:0001250","HP:0004209","HP:0002020","HP:0002553","HP:0000717","HP:0000431"],"has_phenotype_label":["Hyperextensibility at elbow","Short palpebral fissure","Tapered finger","Exaggerated cupid's bow","Abnormality of the elbow","Long hallux","Synophrys","Abnormality of the hand","Feeding difficulties","Recurrent otitis media","Anxiety","Hypotonia","Seizure","Highly arched eyebrow","Short columella","Short toe","Wide nose","Blepharophimosis","Wide nasal bridge","Micrognathia","Clinodactyly","Aplasia/Hypoplasia of the ribs","Global developmental delay","Webbed neck","Short attention span","Low posterior hairline","Delayed speech and language development","Scoliosis","Downslanted palpebral fissures","Gastroesophageal reflux","Atypical behavior","Facial asymmetry","Short middle phalanx of finger","Autism","Eversion of lateral third of lower eyelids","Dolichocephaly","Psychomotor deterioration","Motor stereotypy","Delayed skeletal maturation","Short 5th finger","Atrial septal defect","Abnormal corpus callosum morphology","Delayed gross motor development","Short stature","Depressed nasal tip","Small hand","Constipation","Telecanthus","Intellectual disability","Short nose","Short phalanx of finger","Aggressive behavior","Rhizomelia","Joint hypermobility","Ptosis","Blue sclerae","Prominent forehead","Low frustration tolerance","Sacral dimple","Sleep disturbance","Pes planus","Long philtrum","Failure to thrive","Prominent digit pad","Clinodactyly of the 5th finger","Broad nasal tip","Hyperactivity","Thin upper lip vermilion","Microcephaly","Broad lateral eyebrow","Dilatation of renal calices","Intrauterine growth retardation","Thick hair","Patent ductus arteriosus","Low-set ears","Hypertelorism","Decreased response to growth hormone stimulation test","Broad-based gait","Flat face","Long palpebral fissure","Round face","Long eyelashes","High forehead","Epicanthus","Accelerated skeletal maturation","Brow ptosis","Bulbous nose","Congenital, generalized hypertrichosis","Elbow hypertrichosis","2-3 toe syndactyly","Contracture of the distal interphalangeal joint of the fingers","Postnatal growth retardation","Generalized hypertrichosis","Pectus excavatum","Narrow palpebral fissure","Generalized hirsutism","Hypodontia","Thick eyebrow","Dysphagia","High 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hand","decreased size of the upper limb segment","size of autopod region phenotype","renal pelvis/ureter","kidney calyx","kidney mesenchyme","kidney phenotype","kidney mesenchyme phenotype","renal system morphology phenotype","kidney","upper urinary tract","kidney morphology phenotype","Abnormality of the upper urinary tract","renal system phenotype","decreased width of the palpebral fissure","decreased size of the orifice","Short palpebral fissure","decreased length of palpebral fissure","flat face","Prominent forehead","protruding anatomical entity","prominent anatomical entity","decreased length of digit 5","aplasia or hypoplasia of manual digit 5","Aplasia/Hypoplasia of the 5th finger","decreased length of digit 1 or 5","elbow phenotype","decreased length of tendon","decreased size of the palpebral fissure","decreased length of tissue","Abnormal tendon morphology","tendon phenotype","Interphalangeal joint contracture of finger","muscle organ morphology phenotype","decreased length of tendon attached to manual digit","connective tissue phenotype","decreased length of anatomical entity attached to manual digit","decreased length of tendon attached to digit","decreased length of tendon attached to forelimb joint","dense regular connective tissue phenotype","Abnormality of connective tissue","Finger joint contracture","Upper-limb joint contracture","decreased length of regular connective tissue","distal interphalangeal joint","Abnormal skeletal muscle morphology","decreased length of connective tissue","synovial joint","Abnormality of upper limb joint","manus joint","decreased length of dense regular connective tissue","autopod joint","synovial limb joint","tendon","dense regular connective tissue","decreased length of anatomical conduit","decreased length of anatomical entity attached to digit","asexual reproduction","decreased reproductive process","decreased qualitatively reproductive process","Postnatal growth retardation","decreased size of the limb","decreased length of appendage","Rhizomelia","Limb undergrowth","decreased size of the structure with developmental contribution from neural crest","increased biological_process in skeleton","increased developmental maturation in skeleton","decreased size of the bone of free limb or fin","forelimb long bone phenotype","decreased size of the phalanx","decreased length of bone element","renal pelvis phenotype","decreased size of the long bone","decreased length of forelimb long bone","Aplasia/Hypoplasia of the middle phalanges of the hand","manus bone phenotype","Short middle phalanx of finger","bone of pectoral complex morphology phenotype","decreased size of the anatomical structure in the pectoral complex","manual digit bone","manual digitopodium bone","long bone phenotype","Aplasia/hypoplasia involving bones of the upper limbs","decreased length of digitopodium bone","decreased size of the autopod endochondral element","decreased length of limb long bone","aplasia or hypoplasia of phalanx of manus","phalanx of manus phenotype","phalanx of manus hypoplasia","bone of pectoral complex phenotype","manual digit bone phenotype","decreased size of the anatomical entity in the pectoral complex","manual digit phalanx endochondral element phenotype","decreased size of the endochondral bone","decreased size of the limb endochondral element","decreased length of manual digit","decreased size of the material anatomical entity in the pectoral complex","decreased length of manual digit phalanx endochondral element","Accelerated skeletal maturation","decreased size of the manus bone","Short phalanx of finger","middle phalanx","phalanx of manus","Abnormality of the kidney","digitopodium bone","decreased length of bone of free limb or fin","anatomical entity morphology in the skeleton of manus phenotype","long bone","forelimb endochondral element phenotype","phalanx","phalanx endochondral element","manual digit phalanx endochondral element","forelimb bone","phalanx phenotype","decreased width of the orifice","manual digit digitopodial skeleton","autopod endochondral element","bone of pectoral complex","digitopodium bone phenotype","decreased size of the bone of appendage girdle complex","decreased size of the autopod bone","decreased length of forelimb endochondral element","decreased size of the manual digit","increased bone maturation in skeleton","decreased size of the bone of pectoral complex","Eversion of lateral third of lower eyelids","everted eyelid","increased width of collection of hair on face","Broad lateral eyebrow","increased width of eyebrow","Broad eyebrow","increased width of anatomical collection","Aplasia/Hypoplasia of the ribs","Abnormal rib cage morphology","rib morphology phenotype","rib","size of multicellular organism phenotype","multicellular organism height phenotype","decreased height of the anatomical entity","limb long bone","decreased size of the multicellular organism","Abnormal curvature of the vertebral column","Scoliosis","nose hypoplasia","Abnormal 5th finger morphology","deviation of manual digit towards the middle","deviation of anatomical entity","deviation of manual digit 5","limb long bone morphology phenotype","Clinodactyly","decreased size of the autopod region","Finger clinodactyly","upper urinary tract phenotype","manual digit 1 or 5","renal/urinary system phenotype","manual digit 5 plus metapodial segment","animal organ development","decreased bone maturation in skeleton","anatomical structure maturation","system development","decreased qualitatively animal organ maturation","anatomical structure maturation phenotype","decreased length of manual digit bone","Delayed skeletal maturation","Abnormality of skeletal maturation","Joint contracture","Highly arched eyebrow","phalanx endochondral element phenotype","arched eyebrow","Abnormality of the elbow","digit 2 plus metapodial segment","fused anatomical entity and anatomical entity","2-3 toe syndactyly","fused anatomical entity and pedal digit 3","fused digit and anatomical entity","fused pedal digit and anatomical entity","fused anatomical entity and digit","fused pedal digit 2 and pedal digit 3","digit 2","Elbow hypertrichosis","Congenital, generalized hypertrichosis","delayed sorocarp development","delayed anatomical structure development","sorocarp development phenotype","pedal digit 2, 3 or 4","socially cooperative development phenotype","biological process involved in intraspecies interaction between organisms phenotype","Intellectual disability","muscle tone","Decreased head circumference","decreased size of the head","aplasia or hypoplasia of telencephalon","Aplasia/Hypoplasia involving the central nervous system","Microcephaly","increased animal organ maturation in skeleton","Abnormal cognitive process","Abnormal speech pattern","Abnormal communication","speech pattern; vocalization","location of eyeball of camera-type eye phenotype","increased length of the anatomical line between pupils","Abnormal conjugate eye movement","eye movement","location of camera-type eye phenotype","anatomical line between pupils","Strabismus","Decreased external ear position","Low-set ears","external ear morphology phenotype","location of external ear phenotype","Abnormal location of ears","Abnormal pinna morphology","Abnormality of the outer ear","Decreased multicellular organism mass","Failure to thrive","decreased qualitatively growth","decreased anatomical structure mass","Abnormality of body weight","anatomical entity mass phenotype","Short 5th finger","multicellular anatomical structure mass phenotype","facial skeleton phenotype","Abnormal facial skeleton morphology","epithelial fold phenotype","facial skeleton","bone of lower jaw","mandible","bone of lower jaw phenotype","dentary phenotype","manual digitopodium bone phenotype","anatomical entity hypoplasia","aplasia or hypoplasia of skull","decreased length of dense connective tissue","Aplasia/Hypoplasia involving bones of the skull","epithelial fold","bone of craniocervical region phenotype","neural crest morphology phenotype","Abnormal jaw morphology","decreased length of structure with developmental contribution from neural crest","decreased length of bone of pectoral complex","primary subdivision of cranial skeletal system","Micrognathia","facial bone hypoplasia","neural crest-derived structure phenotype","Aplasia/hypoplasia affecting bones of the axial skeleton","dermal bone","bone of craniocervical region","intramembranous bone","membrane bone","primary subdivision of cranial skeletal system phenotype","mandibular prominence morphology phenotype","skeleton of manus","lower jaw region","aplasia or hypoplasia of mandible","neural groove","bone element hypoplasia in face","neural groove phenotype","neural crest phenotype","dermatocranium","location of ear phenotype","jaw skeleton","neural crest-derived structure","Aplasia/Hypoplasia of the mandible","Abnormal mandible morphology","aplasia or hypoplasia of rib","dermal skeletal element phenotype","facial bone","mandible morphology phenotype","neural fold phenotype","head bone phenotype","anatomical entity hypoplasia in face","increased height of the multi-tissue structure","High palate","secondary palate morphology phenotype","roof of mouth","roof of mouth morphology phenotype","male reproductive organ","Abnormality of the genitourinary system","male reproductive organ morphology phenotype","external genitalia morphology; external genitalia phenotype","localised anatomical structure","male reproductive system morphology phenotype","Abnormal male external genitalia morphology","testis phenotype","genitourinary system","deviation of digit towards the middle","external genitalia","localised material anatomical entity","Abnormal reproductive system morphology","Limb joint contracture","localised multicellular anatomical structure","Abnormality of the male genitalia","Cryptorchidism","asexual reproduction phenotype","external male genitalia phenotype","location of anatomical entity phenotype","male reproductive system phenotype","localised anatomical entity","Abnormal eye physiology","secondary palate","simple eye physiology phenotype","eye physiology phenotype","lateral structure physiology phenotype","drooping eyelid","Ptosis","growth phenotype","Growth abnormality","developmental process phenotype","decreased qualitatively developmental process","Growth delay","increased developmental process in skeleton","embryo development rate phenotype","decreased size of the paired limb/fin segment","decreased qualitatively embryo development","delayed growth","ectoderm-derived structure physiology phenotype","decreased qualitatively anatomical structure development","animal organ maturation","neural fold morphology phenotype","Intrauterine growth retardation","head or neck skin","renal system","increased length of the epicanthal fold","upper eyelid","skin of head morphology phenotype","increased length of the zone of organ","skin of face morphology phenotype","increased length of the skin of face","decreased size of the forelimb long bone","Epicanthus","increased length of the structure with developmental contribution from neural crest","mandible phenotype","increased size of the zone of organ","increased length of the head or neck skin","increased length of the skin of head","decreased length of limb bone","dentary","increased length of the skin of eyelid","increased size of the structure with developmental contribution from neural crest","increased length of the zone of skin","sloped downward anatomical entity","Downslanted palpebral fissures","decreased size of the middle phalanx","consumption behavior","swallowing","decreased swallowing","snout","arched anatomical entity","nasal bridge","nasal bridge morphology phenotype","esophagus phenotype","Gastroesophageal reflux","gastroesophageal sphincter physiology phenotype","decreased length of phalanx of manus","muscle organ","Short finger","muscle structure","organ physiology phenotype","sphincter muscle phenotype","muscle organ physiology phenotype","biological process involved in intraspecies interaction between organisms","stomach","alimentary part of gastrointestinal system physiology phenotype","esophagus","everted anatomical entity","food storage organ","decreased height of the multicellular organism","decreased material anatomical entity mass","muscle structure physiology phenotype","Clinodactyly of the 5th finger","dermal skeletal element","stomach phenotype","Dilatation of renal calices","upper digestive tract","sphincter muscle physiology phenotype","nasal bridge phenotype","thoracic cavity element physiology phenotype","digestive system element physiology phenotype","food storage organ phenotype","jaw skeleton morphology phenotype","multi organ part structure physiology phenotype","Abnormality of joint mobility","articulation phenotype","skeleton of manual acropodium","articular system","anatomical entity mobility phenotype","skeletal joint mobility phenotype","Joint hypermobility","multicellular anatomical structure physiology phenotype","decreased width of the anatomical structure","Abnormal joint physiology","head bone","embryonic facial prominence","decreased size of the subdivision of organism along appendicular axis","pharyngeal arch 1 phenotype","digestive tract epithelium","digestive system element","protuberance","pharyngeal arch phenotype","maxillary prominence morphology phenotype","skeleton of digitopodium","dermatocranium phenotype","pharyngeal arch 1 morphology phenotype","maxillary prominence","Abnormality of the philtrum","Abnormal nasal bridge morphology","foregut","Abnormality of the musculature","embryonic nasal process","pharyngeal arch 1","pharyngeal arch","Long philtrum","deviation of manual digit 5 towards the middle","sloped anatomical entity","medial nasal prominence morphology phenotype","protuberance phenotype","embryonic head","medial nasal prominence","cardiac chamber","cardiac septum phenotype","animal gross anatomical part developmental process","cardiac atrium phenotype","Atrial septal defect","Abnormal heart morphology","anatomical structure development phenotype","interatrial septum morphology phenotype","septum","decreased length of manus bone","Abnormal cardiac atrium morphology","Decreased anatomical entity mass","septum phenotype","reproductive process","cardiac chamber phenotype","incomplete closing of the cardiac septum","cardiac septum morphology phenotype","Abnormal thorax morphology","sternum morphology phenotype","thoracic rib cage","sternum","concave anatomical entity","chest phenotype","Aplasia/Hypoplasia of the phalanges of the hand","shape of sternum phenotype","localised reproductive structure","decreased size of the lip","deviation of anatomical entity towards the middle","external ear phenotype","Thin upper lip vermilion","decreased thickness of the upper lip","cavitated compound organ","dense connective tissue","arterial system","surface groove","systemic arterial system","decreased length of middle phalanx of manus","vasculature","multicellular anatomical structure morphology in the heart phenotype","vasculature phenotype","thoracic segment organ phenotype","embryonic cardiovascular system","circulatory system phenotype","Generalized hypertrichosis","Abnormal external genitalia morphology","anatomical entity morphology in the heart phenotype","reproductive process phenotype","anterior lateral plate mesoderm","systemic artery phenotype","anatomical structure morphology in the heart phenotype","cell phenotype","Abnormality of the vasculature","increased height of the secondary palate","blood vessel phenotype","heart tube morphology phenotype","pharyngeal arch system","heart tube phenotype","gastrointestinal sphincter physiology phenotype","artery morphology phenotype","incomplete closing of the coronary vessel","cardiopharyngeal field","Abnormal blood vessel morphology","splanchnic layer of lateral plate mesoderm phenotype","cardiovascular system phenotype","skeleton of pectoral complex","vessel phenotype","cardiogenic splanchnic mesoderm phenotype","decreased length of middle phalanx","vascular system morphology phenotype","outflow tract","artery phenotype","Abnormal morphology of the great vessels","compound organ phenotype","increased height of the roof of mouth","incomplete closing of the anatomical structure","strabismus","Abnormality of the cardiovascular system","coronary vessel morphology phenotype","primary circulatory organ phenotype","coronary vessel","blood vessel","circulatory organ","Patent ductus arteriosus","viscus","thoracic segment organ","primary heart field","heart primordium","vasculature of organ phenotype","trunk blood vessel phenotype","Congenital malformation of the great arteries","skin of eyelid","heart blood vessel","arterial blood vessel","great vessel of heart","skin of head","primary circulatory organ","thoracic cavity element","heart","Ectropion","conceptus","cell","increased anatomical structure maturation in skeleton","cardiovascular system morphology phenotype","outflow tract phenotype","systemic artery","anlage","ductus arteriosus morphology phenotype","viscus phenotype","thoracic segment blood vessel","artery","heart plus pericardium","snout morphology phenotype","meso-epithelium phenotype","decreased length of paired limb/fin","incomplete closing of the thoracic segment blood vessel","great vessel of heart phenotype","systemic artery morphology phenotype","skeleton of manual digitopodium","arterial blood vessel phenotype","incomplete closing of the systemic artery","incomplete closing of the material anatomical entity","incomplete closing of the artery","heart primordium phenotype","great vessel of heart morphology phenotype","stress related behavior","anxiety-related behavior","Abnormal experience of reality","Abnormal hand morphology","Abnormal judgment","heart tube","Anxiety","neural fold","anxiety-related behavior phenotype","shape of longitudinal arch of pes phenotype","flat longitudinal arch of pes","digestion","excretion","digestive system process","defecation","decreased excretion","digestive system process phenotype","decreased qualitatively digestive system process","Thick hair","limb joint","excretion phenotype","decreased digestive system process","Abnormality of the digestive system","Constipation","increased height of the organism subdivision","decreased anatomical structure development","forehead morphology phenotype","increased height of the forehead","forehead phenotype","increased height of the multicellular anatomical structure","oral opening","increased height of the anatomical entity","localised male reproductive organ","frontonasal prominence","Abnormal forehead morphology","anatomical entity height phenotype","increased height of the anatomical structure","increased size of the subdivision of head","skeleton of lower jaw phenotype","increased height of the material anatomical entity","kidney calyx morphology phenotype","size of forehead phenotype","fused pedal digit 2 and anatomical entity","increased number of organ part in the face","shape of external ear phenotype","increased number of integumentary projection in the face","blood vasculature","strand of hair of face phenotype","cavitated compound organ phenotype","strand of hair of face","Prominent digit pad","increased number of strand of hair of face","increased number of anatomical entity in the face","Synophrys","hair of head phenotype","camera-type eye physiology phenotype","increased number of morphological feature in the face","increased number of integumentary adnexa in the face","sleep","Sleep disturbance","increased volume of anatomical entity","Motor stereotypy","Restricted or repetitive behaviors or interests","ear morphology phenotype","increased defense response in middle ear","response to stress","vascular system","middle ear phenotype","response to stimulus phenotype","sternum phenotype","defense response","decreased asexual reproduction","defense response phenotype","material anatomical entity morphology in the heart phenotype","inflammatory response","increased inflammatory response","decreased size of the paired limb/fin","response to stress phenotype","inflammatory response phenotype","vestibulo-auditory system phenotype","Otitis media","increased behavior","acropodial skeleton","delayed biological_process","feeding behavior","axon tract","reproductive structure","decreased size of the forelimb bone","forebrain phenotype","Hypertrichosis","telencephalon morphology phenotype","anatomical entity morphology in the skeleton of pectoral complex phenotype","bone maturation","gastrula morphology phenotype","Abnormal cerebral morphology","commissure of telencephalon phenotype","endochondral bone","increased number of strand of hair","immaterial anatomical entity","Abnormality of the ocular adnexa","axial skeleton plus cranial skeleton phenotype","decreased qualitatively multicellular organismal process","brain commissure","neural plate","middle phalanx of manus","upper lip","anatomical space phenotype","subdivision of digestive tract phenotype","nervous system","dorsum","Echophenomenon","subdivision of tube","subdivision of digestive tract","abdomen","developing anatomical structure phenotype","Abnormal muscle tone","anatomical cavity","behavior","digestive system morphology phenotype","Toe syndactyly","increased width of anatomical point","digestive tract","increased width of ectoderm-derived structure","oral cavity morphology phenotype","Narrow palpebral fissure","increased anatomical entity mobility","decreased number of material anatomical entity in the multicellular organism","pelvic appendage bud phenotype","digestive system","decreased width of the material anatomical entity","oral cavity phenotype","tube","digitopodium region","future central nervous system phenotype","cranial skeletal system phenotype","digestive system phenotype","multicellular organism morphology phenotype","lip","decreased length of skeletal element","midface phenotype","cell condensation","anatomical conduit","Opisthokonta","chest morphology phenotype","upper lip morphology phenotype","dorsal telencephalic commissure","sclera phenotype","lip morphology phenotype","Abnormal renal morphology","flat anatomical entity","upper lip phenotype","organ subunit","incomplete closing of the heart blood vessel","Abnormal skin adnexa morphology","increased number of cutaneous appendage","Abnormal hair quantity","Abnormal language feature","decreased export from cell","forelimb skeleton phenotype","axon tract phenotype","increased number of anatomical structure","alimentary part of gastrointestinal system phenotype","increased length of the palpebral fissure","developmental process","multi-limb segment region","skin epidermis phenotype","anatomical projection","cardiogenic plate morphology phenotype","Abnormal forebrain morphology","mesenchyme","increased length of the pedal digit 1","limb long bone phenotype","increased width of nasal bridge","Short digit","integumental system","manual digit 5","organ subunit phenotype","ectoderm-derived structure phenotype","face","decreased length of surface structure","strand of hair","blood vessel morphology phenotype","regional part of nervous system phenotype","organ part physiology phenotype","external integument structure phenotype","muscle organ phenotype","increased number of anatomical entity","number of anatomical enitites of type anatomical entity phenotype","Abnormality of body height","skeleton of pes","skin of body phenotype","integument phenotype","regulation of biological quality phenotype","male organism","cognition","Abnormal nervous system morphology","strand of hair phenotype","pectoral appendage bud phenotype","incomplete closing of the septum","decreased system process","pectoral complex","increased developmental process","pharyngeal arch morphology phenotype","ocular adnexa phenotype","Abnormality of digestive system physiology","arm phenotype","skin epidermis","thoracic rib cage morphology phenotype","midface","neural crest","ectoderm morphology phenotype","trunk region element physiology phenotype","upper limb segment phenotype","ectodermal placode","hindlimb phenotype","male reproductive organ phenotype","decreased localization","pedal digit","multi cell part structure","manus phenotype","Abnormality of the dentition","incomplete closing of the interatrial septum","upper limb segment","multi-tissue structure","decreased length of autopodial extension","regulation of hormone levels phenotype","forelimb bud phenotype","skeleton of limb phenotype","viscus physiology phenotype","sacral region","increased length of the anatomical projection","decreased size of the anatomical entity","decreased size of the material anatomical entity","decreased size of the anatomical structure","telencephalon phenotype","neural plate morphology phenotype","decreased length of material anatomical entity","sense organ phenotype","eye","anatomical line","cardia of stomach","decreased length of anatomical structure","connective tissue","anatomical entity physiology phenotype","cutaneous appendage","increased rate of frustration behavior","ectoderm phenotype","subdivision of trunk","increased rate of behavior process","behavior process","pectoral appendage bud","central nervous system phenotype","pituitary gland phenotype","asymmetry of face phenotype","morphological feature","emotional behavior","emotional behavior phenotype","neck","increased qualitatively biological_process","frustration behavior","Abnormal corpus callosum morphology","delayed developmental process","increased number of material anatomical entity","behavior process phenotype","mouth","olfactory organ phenotype","irregular bone phenotype","compound organ","primordium","sacral region of vertebral column phenotype","Abnormal cardiac septum morphology","cranial placode phenotype","Slanting of the palpebral fissure","Abnormal external nose morphology","manual digitopodium region","disconnected anatomical group","increased length of the surface groove","external nose morphology phenotype","brain phenotype","orifice phenotype","system process","body proper","individual digit of digitopodial skeleton","upper jaw region","drooping anatomical entity","increased number of anatomical projection","craniocervical region","Abnormal upper lip morphology","nose","localised organ","Abnormal oral morphology","decreased peptide hormone secretion","Aplasia/Hypoplasia of toe","decreased length of digit","decreased growth hormone secretion","export from cell","non-neural ectoderm","High forehead","Abnormal nasal morphology","craniocervical region phenotype","nervous system commissure phenotype","visual system","prominent forehead","Abnormality of globe location","digestive system element phenotype","increased response to stimulus","irregular bone","shape of anatomical entity phenotype","columella nasi","primordium phenotype","olfactory placode phenotype","head phenotype","pedal digit morphology phenotype","skeletal system development","oral cavity","biological_process phenotype","pedal digit 2 morphology phenotype","sense organ","subdivision of head","limb phenotype","forelimb bone phenotype","shape of eyelid phenotype","anterior region of body","subdivision of head phenotype","decreased defecation","sclerotome morphology phenotype","decreased length of manual digit 5","external soft tissue zone phenotype","increased length of the eyelash","Abnormality of skull size","multicellular organism mass phenotype","non-neural ectoderm phenotype","flattened anatomical entity","increased biological_process","localised gonad","increased number of multicellular anatomical structure","epithelium phenotype","sacral region of vertebral column","blastula","Abnormality of the gastrointestinal tract","cardiogenic splanchnic mesoderm","skeletal system phenotype","germ layer morphology phenotype","developmental maturation phenotype","increased multicellular organismal process","trunk blood vessel","brain commissure phenotype","flat nose tip","unilaminar epithelium phenotype","bone of dorsum phenotype","vault of skull","Abnormal affect","anatomical structure phenotype","decreased length of bone of appendage girdle complex","Abnormality of the head","decreased qualitatively behavior","gastrointestinal sphincter","olfactory placode","number of anatomical enitites of type material anatomical entity phenotype","anatomical point phenotype","decreased size of the manus","non-connected functional system","epithelium","chest","splanchnic layer of lateral plate mesoderm","number of anatomical enitites of type strand of hair phenotype","material entity","Hirsutism","social inhibition","Contracture of the distal interphalangeal joint of the fingers","Short nose","Abnormality of the nose","Low posterior hairline","external soft tissue zone","Aplasia/Hypoplasia of the cerebrum","cerebral hemisphere white matter","foregut phenotype","Abnormal nasal tip morphology","Cognitive impairment","brain white matter morphology phenotype","endochondral element","Thin vermilion border","subdivision of organism along main body axis","increased length of the anatomical entity","endocrine system physiology phenotype","pelvic complex","Low frustration tolerance","decreased embryo development","collection of hair on face","decreased length of limb endochondral element","Abnormality of eye movement","increased length of the manual digit","skeletal joint morphology phenotype","bone element","subdivision of organism along appendicular axis","increased size of the sense organ","external ectoderm morphology phenotype","segment of autopod","Abnormal renal calyx morphology","shape of nose tip phenotype","appendicular skeletal system","muscle structure phenotype","increased length of the multicellular anatomical structure","craniofacial/craniocervical phenotype","abdomen element phenotype","foregut morphology phenotype","white matter of forebrain","size of palpebral fissure phenotype","increased response to stimulus in middle ear","pelvic appendage phenotype","number of anatomical enitites of type organ part phenotype","anatomical entity morphology in the pelvic complex phenotype","ecto-epithelium","Wide nasal bridge","male organism phenotype","circulatory organ phenotype","peptide secretion","incomplete closing of the anatomical entity","subdivision of skeletal system phenotype","appendage girdle complex","embryonic tissue phenotype","genitourinary system phenotype","pelvic appendage","autopod endochondral element phenotype","increased size of the pedal digit","fused digit and digit","decreased multicellular organism development","Long toe","Flexion contracture of finger","white matter","Abnormal middle phalanx morphology of the hand","pedal digit 2 phenotype","zone of skin morphology phenotype","decreased length of phalanx endochondral element","Deviation of finger","Abnormal hair morphology","neurogenic placode","musculoskeletal movement phenotype","immaterial anatomical entity phenotype","entity","Aggressive behavior","central nervous system cell part cluster phenotype","skeletal system","anlage phenotype","mouth phenotype","decreased length of orifice","pedal digit phenotype","decreased size of the digitopodium bone","decreased secretion in pituitary gland","anatomical structure","meso-epithelium","columella nasi phenotype","hindlimb morphology phenotype","decreased number of anatomical entity in the multicellular organism","anatomical space","localised reproductive organ","hairline phenotype","decreased biological regulation","embryo phenotype","decreased number of multicellular anatomical structure in the multicellular organism","hindlimb","organ component layer","pectoral appendage phenotype","Abnormal finger morphology","material anatomical entity phenotype","germ layer","continuant","increased length of the pedal digit 1 or 5","integumentary projection phenotype","decreased peptide transport","pilosebaceous unit morphology phenotype","lateral structure","outer epithelium phenotype","lateral plate mesoderm","endochondral element phenotype","limb segment phenotype","immaterial entity","Abnormality of the genital system","Abnormality of the musculoskeletal system","primary heart field phenotype","manus morphology phenotype","bone of appendage girdle complex phenotype","arm","external nose","forelimb endochondral element","gross anatomical part","aggressive behavior","pre-chordal neural plate phenotype","cerebral hemisphere morphology phenotype","Abnormal limb bone morphology","pedal digit 1 or 5","increased number of integumentary adnexa","gland of diencephalon phenotype","multicellular anatomical structure","Disproportionate short-limb short stature","process","Abnormality of the nervous system","decreased size of the limb long bone","rib skeletal system","eye phenotype","limb bone","spatial pattern of strand of hair phenotype","Abnormality of head or neck","embryonic autopod plate","Impairment in personality functioning","hindlimb bud morphology phenotype","simple eye","Abnormality of the hand","organ","nose tip morphology phenotype","Depressed nasal tip","export from cell phenotype","Round face","Abnormal sclera morphology","phenotype","system","signal release","Neurodevelopmental abnormality","regional part of nervous system","Atypical behavior","vault of skull phenotype","increased size of the organ","articulation","Long hallux","appendicular skeleton morphology phenotype","organ part phenotype","anatomical system","decreased size of the connective tissue","skin epidermis morphology phenotype","neuromuscular process","decreased size of the subdivision of organism along main body axis","digit phenotype","concave sternum","bone element phenotype","integumentary projection","hindlimb bud phenotype","anatomical system phenotype","decreased length of limb","hindlimb skeleton","pedal digit 2 plus metapodial segment","increased length of the morphological feature","anatomical entity morphology phenotype","neuroectoderm","subdivision of skeleton phenotype","increased size of the organism subdivision","number of anatomical enitites of type morphological feature phenotype","diencephalon","gastrointestinal sphincter phenotype","collection of hairs on head or neck","intramembranous bone phenotype","dense mesenchyme tissue","increased size of the multi-tissue structure","Mental deterioration","Abnormal nervous system physiology","increased size of the multicellular anatomical structure","decreased width of the multicellular anatomical structure","nervous system process","multi cell part structure phenotype","Short stature","constipation","tissue phenotype","Abnormality of mental function","Aplasia/hypoplasia involving bones of the lower limbs","increased number of anatomical structure in the face","number of anatomical enitites of type organ phenotype","Abnormal sternum morphology","subdivision of tube phenotype","vasculature of trunk","increased size of the palpebral fissure","sense organ physiology phenotype","incomplete closing of the arterial blood vessel","surface structure","anatomical structure development","Short columella","Abnormality of the integument","incomplete closing of the vessel","appendage phenotype","subdivision of organism along main body axis phenotype","rib endochondral element","Abnormal sacrum morphology","multicellular organism phenotype","simple eye phenotype","limb bud","manus","embryonic autopod plate morphology phenotype","scalp","Brow ptosis","Abnormality of the mouth","endochondral bone phenotype","autopod region","material anatomical entity","pituitary gland","cardiogenic plate","mesoderm","neural tube","decreased length of manual digit 1 or 5","acropodium region","autopod region phenotype","decreased biological_process in skeleton","head bone morphology phenotype","Abnormal affect regulation","renal pelvis","dermal skeleton phenotype","interatrial septum","ear phenotype","Functional abnormality of the gastrointestinal tract","olfactory organ","pes phenotype","Abnormality of the endocrine system","hormone secretion","decreased size of the anatomical conduit","increased number of organ part","multicellular anatomical structure phenotype","vessel","anatomical cavity phenotype","decreased multicellular anatomical structure mass","organ part","decreased length of phalanx","number of anatomical enitites of type cutaneous appendage phenotype","anatomical entity","embryonic structure","ectodermal placode phenotype","increased size of the orifice","digit 5 plus metapodial segment","Abnormal cardiovascular system morphology","neck phenotype","pedal digitopodium region","manual digit phenotype","subdivision of digestive tract physiology phenotype","Exaggerated cupid's bow","number of anatomical enitites of type integumentary adnexa phenotype","increased size of the forehead","pectoral appendage","Abnormality of the lower limb","membrane bone phenotype","embryonic tissue morphology phenotype","ectoderm","anatomical entity phenotype","subdivision of skeleton","sclerotome phenotype","Abnormal axial skeleton morphology","lateral plate mesoderm phenotype","intercerebral commissure","multicellular organism","mesoderm-derived structure","pedal digit 1 plus metapodial segment","white matter of telencephalon","pedal digit 1","spatial pattern of anatomical entity phenotype","testis","paired limb/fin bud phenotype","response to stimulus","lip phenotype","defecation phenotype","cerebral hemisphere","increased size of the material anatomical entity","corpus callosum morphology phenotype","increased width of material anatomical entity","material anatomical entity physiology phenotype","abdominal segment bone","bone of appendage girdle complex","circulatory system","ductus arteriosus","nervous system phenotype","system process phenotype","increased number of morphological feature","decreased width of the anatomical entity","eye primordium","organ component layer phenotype","increased length of the material anatomical entity","integumentary adnexa morphology phenotype","midface morphology phenotype","decreased qualitatively developmental maturation","limb","Abnormality of the middle ear","decreased length of manual digitopodium bone","decreased length of autopod endochondral element","phenotypic effect","pectoral appendage skeleton phenotype","ectoderm-derived structure","sensory system","decreased size of the limb segment","embryo development","axial skeleton plus cranial skeleton morphology phenotype","head morphology phenotype","reproductive gland","incomplete closing of the ductus arteriosus","posterior region of body","decreased qualitatively multicellular organism development","biological regulation phenotype","decreased length of autopod bone","biological_process","Dysphagia","external integument structure","multi-limb segment region phenotype","adenohypophysis phenotype","central nervous system","testis morphology phenotype","tube phenotype","integumental system phenotype","organ phenotype","growth","Abnormality of the skin","subdivision of organism along appendicular axis phenotype","migrating mesenchyme population","epithelial tube phenotype","phalanx morphology phenotype","multicellular organismal movement phenotype","nervous system commissure","Recurrent maladaptive behavior","autopod bone phenotype","Deviation of the 5th finger","subdivision of tube physiology phenotype","musculoskeletal system","paired limb/fin phenotype","Abnormality of the upper limb","pharyngeal region of foregut","eyelid morphology phenotype","zone of stomach","orbital region phenotype","pedal digit 1 phenotype","limb bone morphology phenotype","size of head phenotype","mesenchyme phenotype","presumptive ectoderm","cerebral hemisphere white matter morphology phenotype","size of anatomical entity phenotype","Abnormal response to endocrine stimulation test","Long eyelashes","dense mesenchyme tissue phenotype","multicellular organismal process","asymmetry of anatomical entity phenotype","Abnormality of the anterior pituitary","mandibular prominence","digit plus metapodial segment","skeletal joint morphology in the pectoral complex phenotype","autopodial extension","Abnormal musculoskeletal physiology","face morphology phenotype","ecto-epithelium phenotype","Abnormal toe morphology","Hypotonia","skeletal system morphology phenotype","increased width of sense organ","fused sacrum morphology phenotype","Abnormal digit morphology","lower limb segment phenotype","Abnormal esophagus physiology","digit","increased size of the anatomical entity","socially cooperative development","skeleton of limb","organ system subdivision phenotype","decreased size of the limb bone","germ layer phenotype","organism subdivision phenotype","Facial asymmetry","skeleton","presumptive structure phenotype","increased width of collection of hairs","shape of eyebrow phenotype","skeletal element phenotype","lateral plate mesoderm morphology phenotype","middle ear","decreased size of the phalanx endochondral element","optic cup morphology phenotype","dermal bone phenotype","secretion phenotype","regulation of biological process","voluntary movement behavior","limb bud morphology phenotype","skin of body","increased size of the autopodial extension","forelimb joint","decreased size of the organ","Bulbous nose","Aplasia/hypoplasia involving bones of the extremities","anatomical system physiology phenotype","shape of face phenotype","heart morphology phenotype","tapered anatomical entity","Abnormal columella morphology","outer epithelium","mesoderm phenotype","Abnormality of upper lip vermillion","cranium","increased size of the digit","elbow","calcareous tooth","gastroesophageal sphincter","tissue","decreased length of columella nasi","brain white matter phenotype","musculature of body phenotype","fused anatomical entity and pedal digit","Facial hypertrichosis","brain commissure morphology phenotype","anatomical point","organism subdivision","male reproductive system","thoracic segment of trunk","increased number of integumentary projection","Decreased anatomical entity position","Abnormal size of the palpebral fissures","anterior neural tube","skull phenotype","digit 1 or 5","biological_process in central nervous system phenotype","postcranial axial skeletal system","occurrent","nose morphology phenotype","Global developmental delay","leg","paired limb/fin bud","incomplete closing of the trunk blood vessel","locomotion phenotype","Deviation of the hand or of fingers of the hand","limb endochondral element","Abnormal ocular adnexa morphology","gonad","decreased qualitatively amide transport","fused sacrum phenotype","surface structure phenotype","All","decreased size of the surface structure","decreased size of the digit","cardiac septum","independent continuant","axon tract morphology phenotype","skeletal element","material anatomical entity mass phenotype","tunica fibrosa of eyeball","digit 1","musculature phenotype","Morphological central nervous system abnormality","increased thickness of the anatomical entity","gastroesophageal reflux","peptide hormone secretion","paired limb/fin skeleton","decreased biological_process in multicellular organism","multi-tissue structure phenotype","Autism","increased number of anatomical entity in the male organism","Psychomotor deterioration","decreased qualitatively anatomical structure maturation","anatomical conduit phenotype","Abnormality of limbs","facial skeleton morphology phenotype","cardiac atrium morphology phenotype","Generalized hirsutism","decreased size of the skeletal element","epicanthal fold","autopod region morphology phenotype","developing anatomical structure","jaw region","Phenotypic abnormality","Disinhibition","deviation of manual digit","limb skeleton subdivision phenotype","appendicular skeleton","increased size of the integumentary adnexa","cranial skeletal system","musculoskeletal system physiology phenotype","columella nasi morphology phenotype","mandible hypoplasia","central nervous system cell part cluster","structure with developmental contribution from neural crest","increased size of the anatomical structure","decreased size of the tissue","Abnormal scalp morphology","increased length of the anatomical structure","dense connective tissue phenotype","joint contracture","esophagus physiology phenotype","increased length of the autopodial extension","paired limb/fin segment","anatomical structure physiology phenotype","Abnormal lip morphology","increased width of multicellular anatomical structure","decreased size of the multicellular anatomical structure in the pectoral complex","paired limb/fin","limb segment","limb morphology phenotype","lower limb segment","Abnormality of limb bone","external male genitalia","forelimb phenotype","bone of free limb or fin phenotype","digit morphology phenotype","autopodial extension phenotype","increased width of nose","future central nervous system","embryo","Abnormal endocrine physiology","neural tube phenotype","head","trunk mesenchyme phenotype","neurogenic placode phenotype","decreased signal release","decreased qualitatively biological_process","musculature of body","presumptive structure","number of anatomical enitites of type multicellular anatomical structure phenotype","germ layer / neural crest phenotype","Abnormality of the scalp hair","shape of continuant phenotype","mesenchyme morphology phenotype","regular connective tissue","pes morphology phenotype","forelimb morphology phenotype","number of anatomical enitites of type integumentary projection phenotype","increased length of the digit 1 or 5","telencephalon","incomplete closing of the anatomical conduit","brain morphology phenotype","Hypopituitarism","forehead","integumentary adnexa phenotype","embryonic craniocervical region","musculoskeletal system phenotype","pedal digit 1 morphology phenotype","increased length of the digit","anatomical collection","developing mesenchymal condensation phenotype","decreased size of the forelimb endochondral element","olfactory placode morphology phenotype","aplasia or hypoplasia of middle phalanx of manus","external ear","cranial placode","Increased inflammatory response","decreased width of the anatomical conduit","pelvic appendage bud","decreased length of anatomical entity attached to forelimb joint","digit 1 plus metapodial segment","skin of face","decreased thickness of the lip","decreased qualitatively hormone transport","craniocervical region morphology phenotype","musculature","mesoderm morphology phenotype","external nose phenotype","increased thickness of the collection of hairs on head or neck","somite","philtrum","structure with developmental contribution from neural crest phenotype","limb bone phenotype","increased length of the digit 1","Abnormality of the skeletal system","anatomical projection phenotype","locomotion","Syndactyly","fear/anxiety related behavior phenotype","increased number of material anatomical entity in the face","entire sense organ system","pedal digit plus metapodial segment","Abnormal cerebral subcortex morphology","cell communication","pectoral appendage skeleton","skeleton of lower jaw","increased number of strand of hair in the male organism","curvature anatomical entity","presumptive ectoderm phenotype","thoracic segment organ physiology phenotype","multi organ part structure phenotype","brain white matter","appendage","ear","increased size of the immaterial anatomical entity","neurectoderm phenotype","Metazoa","behavior phenotype","anterior neural tube phenotype","shape of palpebral fissure phenotype","white matter phenotype","abdomen element","intercerebral commissure phenotype","white matter of forebrain phenotype","dorsal telencephalic commissure morphology phenotype","decreased regulation of biological quality","cardiovascular system","Abnormal brain morphology","regional part of brain","forelimb skeleton","pedal digit 2","neuron projection bundle phenotype","increased size of the manual digit","nervous system morphology phenotype","digit 5","establishment of localization","eyelid","multicellular organism development phenotype","brain","endocrine gland","cerebral hemisphere white matter phenotype","abdominal segment bone phenotype","opening of the anatomical entity","Abnormal eyelash morphology","cellular organisms","forebrain","decreased qualitatively transport","decreased number of anatomical structure in the multicellular organism","Pectus excavatum","cerebral subcortex","epithelial tube","pre-chordal neural plate","face phenotype","decreased qualitatively localization","central nervous system morphology phenotype","forebrain morphology phenotype","Abnormally increased volition","regional part of brain phenotype","aplasia or hypoplasia of manual digit","paired limb/fin segment phenotype","transport phenotype","Aplasia/Hypoplasia involving bones of the thorax","Eukaryota","nose tip phenotype","aplasia or hypoplasia of anatomical entity","decreased size of the pedal digit","decreased length of pedal digit","Abdominal symptom","decreased size of the organism subdivision","Delayed speech and language development","Pes planus","Abnormal facial shape","autopodial skeleton","decreased rate of behavior process","skeleton phenotype","increased width of olfactory organ","reproductive organ","pelvic appendage skeleton","cartilaginous neurocranium","aplasia or hypoplasia of skeleton","aplasia or hypoplasia of thoracic skeleton","Seizure","regulation of biological quality","commissure of telencephalon","decreased size of the autopodial extension","Disproportionate short stature","nose tip","growth hormone secretion","decreased muscle organ tone","bone of pelvic complex morphology phenotype","cardiac atrium","Sacrococcygeal pilonidal abnormality","decreased size of the bone element","decreased length of organism subdivision","biological_process rate phenotype","dorsal region element","Abnormal lower limb bone morphology","multicellular organism development","thoracic cavity element phenotype","Aplasia/hypoplasia involving the skeleton","aplasia or hypoplasia of pedal digit","skeleton of pelvic complex","Language impairment","increased skeletal joint mobility","eyelash","decreased length of multicellular anatomical structure","increased thickness of the anatomical collection","nose phenotype","Localized skin lesion","sensation behavior","attention behavior","sphincter muscle","cognitive behavior","atrial septum morphology","dentition phenotype","Dolichocephaly","Short attention span","facial bone phenotype","eyelid phenotype","decreased length of long bone","immature eye phenotype","palpebral fissure phenotype","dermal skeleton","alimentary part of gastrointestinal system","increased width of anatomical entity","Flat face","organ system subdivision","visual system phenotype","Maladaptive fear-related cognitions","decreased number of material anatomical entity","developmental process rate phenotype","increased length of the anatomical conduit","number of anatomical enitites of type anatomical projection phenotype","optic vesicle phenotype","bone of free limb or fin","camera-type eye","forelimb long bone","increased size of the zone of skin","Abnormal inflammatory response","Abnormality of the palpebral fissures","embryo development phenotype","number of anatomical enitites of type anatomical structure phenotype","digit 1 phenotype","optic cup","endocrine system morphology phenotype","Abnormal cerebral white matter morphology","bone of pelvic complex phenotype","increased size of the anatomical conduit","eye primordium phenotype","longitudinal arch of pes","multi organ part structure","hindlimb bud","palpebral fissure","integument","gland","Abnormal rib morphology","localised testis","orifice","increased response to stress in middle ear","camera-type eye morphology phenotype","camera-type eye phenotype","heart phenotype","head mesenchyme","Long palpebral fissure","excretory system","increased length of the philtrum","Abnormal foot morphology","fused sacrum","optic vesicle","immature eye","multicellular organismal movement","limb skeleton subdivision","orbital region","manual digit","skull morphology phenotype","number of anatomical enitites of type calcareous tooth phenotype","Abnormal eyelid morphology","increased qualitatively locomotion","hairline","hair of head","Abnormal hair pattern","Abnormality of the posterior hairline","increased number of multicellular anatomical structure in the face","Abnormality of the neck","root","Congenital abnormal hair pattern","zone of organ phenotype","skin of body morphology phenotype","cardiogenic splanchnic mesoderm morphology phenotype","anatomical line phenotype","Abnormal joint morphology","decreased length of endochondral element","decreased qualitatively biological regulation","forelimb bud morphology phenotype","ocular adnexa","immune system","dentition","decreased number of organ","gonad phenotype","digit 1 or 5 phenotype","taxon specific phenotype","epithelial vesicle phenotype","nervous system physiology phenotype","Reduced attention regulation","calcareous tooth phenotype","abdominal segment element","mesoderm-derived structure phenotype","number of anatomical enitites of type skeletal element phenotype","decreased size of the endochondral element","decreased number of tooth-like structure","tooth-like structure phenotype","neural plate phenotype","number of anatomical enitites of type tooth-like structure phenotype","Wide nose","decreased size of the multicellular anatomical structure","tooth-like structure","Recurrent otitis media","decreased length of organ","number of anatomical enitites of type structure with developmental contribution from neural crest phenotype","decreased number of multicellular anatomical structure","increased size of the ectoderm-derived structure","decreased number of anatomical structure","Abnormal palate morphology","decreased number of skeletal element","decreased number of calcareous tooth","axial skeletal system","Abnormal oral cavity morphology","vertebral column","increased volume of nose","Hypodontia","increased size of the non-material anatomical boundary","multicellular organismal process phenotype","Abnormal number of teeth","decreased length of anatomical entity","Tooth agenesis","consumption behavior phenotype","pituitary gland morphology phenotype","embryonic tissue","decreased biological_process in brain","cutaneous appendage phenotype","Telecanthus","decreased qualitatively establishment of localization","Small joint hypermobility","appendicular skeleton phenotype","primary subdivision of skull","biological_process rate in brain phenotype","anatomical line between inner canthi","decreased hormone secretion","decreased hormone transport","increased locomotion","anatomical collection phenotype","decreased amide transport","fused pedal digit and pedal digit","decreased qualitatively system process","neck morphology phenotype","growth hormone secretion phenotype","decreased length of forelimb bone","Abnormal finger phalanx morphology","Abnormal muscle physiology","bone of pelvic complex","decreased qualitatively regulation of biological quality","renal pelvis morphology phenotype","endocrine gland morphology phenotype","diencephalon phenotype","thoracic skeleton","decreased qualitatively export from cell","main body axis","Abnormality of the hypothalamus-pituitary axis","decreased length of endochondral bone","structure with developmental contribution from neural crest physiology phenotype","cellular process phenotype","nitrogen compound transport phenotype","skeletal joint","obsolete amide transport","increased length of the organ part","glandular system","decreased establishment of localization","circular face","subdivision of skeletal system","biological_process in nervous system phenotype","Abnormal testis morphology","Gait disturbance","frontonasal prominence morphology phenotype","anatomical entity length phenotype","adenohypophysis","interphalangeal joint","increased biological_process in middle ear","hypothalamus-pituitary axis","gastrula","Abnormality of the eye","peptide transport phenotype","Abnormal middle ear morphology","decreased qualitatively regulation of hormone levels","reproductive system phenotype","decreased qualitatively hormone secretion","reproductive system morphology phenotype","decreased nitrogen compound transport","kidney mesenchyme morphology phenotype","decreased biological_process","decreased qualitatively biological_process in central nervous system","gland of diencephalon","corpus callosum","reproductive gland morphology phenotype","sclerotome","vision/eye phenotype","decreased qualitatively cellular process","decreased qualitatively peptide transport","heart vasculature","decreased peptide secretion","reproductive organ phenotype","bony pelvis","scalp phenotype","body part movement","Abnormality of the ear","decreased qualitatively signal release","eye morphology","decreased qualitatively secretion","reproductive structure phenotype","secretion by cell phenotype","embryonic structure phenotype","endocrine gland phenotype","sorocarp development","hypothalamus-pituitary axis phenotype","paired limb/fin skeleton phenotype","decreased secretion","increased thickness of the collection of hair on face","decreased secretion by cell","Aplasia/Hypoplasia involving bones of the feet","decreased qualitatively secretion by cell","anatomical wall phenotype","unilaminar epithelium","Decreased response to growth hormone stimulation test","decreased transport","Aplasia/hypoplasia of the extremities","gland phenotype","decreased qualitatively nitrogen compound transport","neural tube morphology phenotype","localization","zone of stomach phenotype","trunk phenotype","biological regulation","Abnormal skeletal morphology","nitrogen compound transport","secretion","Abnormal atrial septum morphology","morphological feature phenotype","Abnormal appendicular skeleton morphology","peptide transport","Abnormal hallux morphology","cell-cell signaling","vestibulo-auditory system","signaling","decreased regulation of hormone levels","paraxial mesoderm","Abnormal vascular morphology","hormone transport","decreased biological_process in pituitary gland","pelvic region element phenotype","increased thickness of the eyebrow","pes","peptide secretion phenotype","localization phenotype","amide transport phenotype","signal release phenotype","digestive tract epithelium phenotype","reproductive gland phenotype","Abnormality of the urinary system","Abnormal pituitary gland morphology","decreased cellular process","incomplete closing of the blood vessel","reproductive system","sensory system phenotype","endocrine system","neurocranium","endocrine system phenotype","anatomical cluster","decreased thickness of the sclera","subdivision of trunk phenotype","bone of jaw phenotype","entire embryonic mesenchyme","Joint contracture of the hand","presumptive paraxial mesoderm phenotype","external ectoderm","vertebral column phenotype","presomitic mesoderm","skeletal joint physiology phenotype","Abnormal neck morphology","postcranial axial skeleton phenotype","developmental maturation","digit 2, 3 or 4","paraxial mesoderm morphology phenotype","cell condensation phenotype","skull","rib phenotype","transport","Sacral dimple","migrating mesenchyme population phenotype","Abnormality of the vertebral column","bone of dorsum","pedal digit 1 or 5 phenotype","vertebral column morphology phenotype","developing mesenchymal condensation","bone development","mouth morphology phenotype","pelvic region of trunk","anatomical entity morphology in the appendage girdle complex phenotype","abdominal segment element phenotype","presumptive paraxial mesoderm","Aplasia/Hypoplasia of fingers","Decreased body weight","somite phenotype","external genitalia phenotype","increased number of strand of hair in the face","Abnormality of the orbital region","paraxial mesoderm phenotype","trunk region element","trunk bone phenotype","postcranial axial skeleton","Aplasia/hypoplasia involving bones of the hand","white matter of telencephalon phenotype","presomitic mesoderm morphology phenotype","tract of brain phenotype","Motor delay","Abnormal skin morphology","presomitic mesoderm phenotype","epithelial vesicle","incomplete closing of the multicellular anatomical structure","trunk mesenchyme","manual digit 5 morphology phenotype","Abnormality of immune system physiology","abdominal segment of trunk","trunk region element phenotype","regular connective tissue phenotype","Skin dimple","increased length of the anatomical line","trunk","leg phenotype","increased width of anatomical structure","increased width of collection of hairs on head or neck","gland morphology phenotype","increased width of organ","increased size of the nose","Recurrent infections","pilosebaceous unit","increased size of the olfactory organ","bone of jaw","integumentary adnexa","skin of neck morphology phenotype","manus bone","webbed neck","dorsal region element phenotype","zone of skin","Short toe","Webbed neck","pelvic region element","decreased number of structure with developmental contribution from neural crest","skin of neck","subdivision of vertebral column","zone of organ","circular anatomical entity","diencephalon morphology phenotype","trunk bone","2-D shape anatomical entity","surface groove phenotype","Blepharophimosis","voluntary musculoskeletal movement phenotype","tract of brain","voluntary movement behavior phenotype","increased number of cutaneous appendage in the face","Broad-based gait","nervous system process phenotype","neuromuscular process phenotype","Broad nasal tip","vasculature of trunk phenotype","Abnormality of movement","decreased growth","kinesthetic behavior","anatomical structure mass phenotype","voluntary musculoskeletal movement","establishment of localization phenotype","musculoskeletal movement","decreased thickness of the anatomical entity","philtrum morphology phenotype","increased length of the orifice","sclera","digestive system physiology phenotype","eyeball of camera-type eye","Blue sclerae","eye movement phenotype","limb bud phenotype","eyeball of camera-type eye phenotype","philtrum phenotype","decreased size of the organ part","increased length of the pedal digit","Abnormal eye morphology","sharpness anatomical entity","autopod bone","non-material anatomical boundary phenotype","anatomical entity thickness phenotype","decreased developmental process","sclera morphology phenotype","anatomical wall","increased width of nose tip","segment of pes","increased width of immaterial anatomical entity","increased length of the cutaneous appendage","increased length of the integumentary adnexa","increased size of the organ part","fear/anxiety related behavior","increased size of the anatomical projection","anatomical cluster phenotype","increased length of the integumentary projection","Feeding difficulties","Hypertelorism","increased length of the strand of hair","eyelash morphology phenotype","eyelash phenotype","size of skull phenotype","increased size of the morphological feature","Abnormal skull morphology","increased kinesthetic behavior","Abnormality of the face","Abnormal calvaria morphology","scoliosis","collection of hairs","cartilaginous neurocranium phenotype","social behavior","development of anatomical entity phenotype","neurocranium phenotype","axial skeleton plus cranial skeleton","head mesenchyme phenotype","primary subdivision of skull phenotype","cellular process","eyebrow morphology phenotype","increased qualitatively response to stimulus","neuron projection bundle","subdivision of vertebral column phenotype","eyebrow","Hyperextensibility at elbow","Anterior hypopituitarism","Thick eyebrow","non-material anatomical boundary","increased thickness of the collection of hairs","elliptic anatomical entity","increased thickness of the material anatomical entity","Autistic behavior","increased number of anatomical projection in the face","Diagnostic behavioral phenotype","decreased anatomical entity tone","increased height of the subdivision of head","Delayed gross motor development","Neurodevelopmental delay","long bone morphology phenotype","motor delay; motor developmental delay","increased length of the anatomical line between inner canthi","forelimb","forelimb bud","lateral structure phenotype","increased size of the anatomical line","increased length of the immaterial anatomical entity","sloped downward palpebral fissure","increased length of the non-material anatomical boundary","decreased size of the appendage","anatomical entity morphology in the pectoral complex phenotype","Tapered finger","shape of digit phenotype","segment of manus","shape of manual digit phenotype","regulation of hormone levels","shape of anatomical entity in pectoral complex phenotype","decreased number of anatomical entity","tapered manual digit","immune system phenotype","Long fingers","tendon morphology phenotype","skeletal joint phenotype","vasculature of organ","manual digit morphology in the manus phenotype","Regional abnormality of skin","sharp anatomical entity","anatomical entity morphology in the manus phenotype","manual digit plus metapodial segment","Hyperactivity","decreased behavior","embryo morphology phenotype","germ layer / neural crest","decreased social inhibition","secretion by cell","Abnormal volitional state","decreased multicellular organismal process","increased qualitatively inflammatory response","Eumetazoa","immune system physiology phenotype","limb endochondral element phenotype","Abnormality of the immune system","future nervous system","increased length of the organism subdivision","Abnormal eyebrow morphology","increased inflammatory response in middle ear","Abnormal ear morphology","Abnormality of the hairline","Unusual infection"],"has_descendant":["MONDO:0011518"],"has_descendant_label":["Wiedemann-Steiner syndrome"],"has_descendant_count":1,"score":null,"highlighting":{}},{"id":"MONDO:0011549","category":"biolink:Disease","name":"hypotrichosis 1","xref":["DOID:0110698","GARD:0024806","MEDGEN:1644234","OMIM:605389","UMLS:C4551976"],"synonym":["APCDD1 hypotrichosis","HHS","HTS","HYPT1","hereditary generalised hypotrichosis simplex","hypotrichosis 1","hypotrichosis caused by mutation in APCDD1","hypotrichosis type 1"],"full_name":null,"in_taxon":null,"in_taxon_label":null,"symbol":null,"file_source":"phenio_nodes","provided_by":"phenio_nodes","type":null,"description":"Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.","iri":null,"has_attribute":null,"has_biological_sex":null,"exact_synonym":["APCDD1 hypotrichosis","HTS","HYPT1","hereditary generalised hypotrichosis simplex","hypotrichosis 1","hypotrichosis caused by mutation in APCDD1","hypotrichosis type 1"],"broad_synonym":["HHS"],"narrow_synonym":null,"related_synonym":null,"deprecated":null,"same_as":null,"subsets":["gard_rare","nord_rare","rare"],"synonyms":null,"has_gene":null,"namespace":"MONDO","has_phenotype":["HP:0002225","HP:0002215","HP:0008070","HP:0000164","HP:0002231","HP:0045075","HP:0001597","HP:0000653","HP:0000951"],"has_phenotype_label":["Abnormality of the skin","Abnormal nail morphology","Sparse eyebrow","Sparse body hair","Sparse hair","Abnormality of the dentition","Sparse eyelashes","Sparse pubic hair","Sparse axillary hair"],"has_phenotype_count":9,"has_phenotype_closure":["HP:0000534","UBERON:0010163","UBERON:0014382","UBERON:0010165","UBERON:0002204","UPHENO:0002746","UPHENO:0076786","UPHENO:0002891","UBERON:0003672","UBERON:0002553","UPHENO:0076800","HP:0000153","HP:0031816","HP:0000164","UBERON:0004921","UBERON:0011137","UPHENO:0002826","HP:0000163","UBERON:0001555","UBERON:0000464","UPHENO:0002957","UPHENO:0002828","UPHENO:0002668","UPHENO:0002964","UBERON:0035639","UBERON:0004456","UBERON:0000481","UPHENO:0002548","NCBITaxon:33208","UBERON:0015203","UBERON:0000970","UBERON:0001456","UBERON:0001711","NCBITaxon:33154","UPHENO:0087472","UPHENO:0086486","UBERON:0000021","HP:0001574","NCBITaxon:2759","UPHENO:0087924","UPHENO:0004537","UPHENO:0011538","UPHENO:0004494","UBERON:0006003","UBERON:0000063","UBERON:0013699","HP:0009888","UPHENO:0011484","UPHENO:0002949","UBERON:0010707","HP:0001597","UPHENO:0002564","HP:0000315","UPHENO:0002731","UBERON:0010000","UBERON:0002100","UPHENO:0002553","UBERON:0001003","HP:0000152","UPHENO:0002580","UPHENO:0088123","UPHENO:0080079","UBERON:0012140","UPHENO:0001001","UPHENO:0003410","UBERON:0004088","UPHENO:0002861","HP:0001595","UBERON:0001062","UPHENO:0087661","UPHENO:0003189","UPHENO:0002568","UBERON:0002097","UPHENO:0011491","UBERON:0012139","UBERON:0005423","UBERON:0000019","RO:0002577","UBERON:0011216","UBERON:0000076","UBERON:0001421","UPHENO:0002902","UPHENO:0086842","UBERON:0012354","UPHENO:0004520","UPHENO:7000490","UPHENO:0002782","NCBITaxon:131567","UPHENO:0002541","UBERON:0001702","UBERON:0010316","UBERON:0013701","UPHENO:0002833","UBERON:0003102","UBERON:0006601","UPHENO:0002988","UBERON:0013703","HP:0002225","UPHENO:0076737","UPHENO:0002963","UBERON:0007811","UBERON:0010166","UPHENO:0002866","NCBITaxon:1","UPHENO:0011531","UBERON:0002101","UPHENO:0003021","UBERON:0010538","UBERON:0002050","UBERON:0000483","HP:0011362","UPHENO:0002926","UPHENO:0002536","UPHENO:0002928","UBERON:0013698","UPHENO:0075888","HP:0100840","UPHENO:0002807","UBERON:0000479","UPHENO:0080140","UBERON:0034944","UPHENO:0005110","UPHENO:0005030","UBERON:0000307","HP:0000001","UBERON:0004529","UBERON:0034768","UPHENO:0004885","UPHENO:0011511","UPHENO:0002982","UPHENO:0076692","UPHENO:0003366","BFO:0000001","UBERON:3000961","HP:0030669","UBERON:0000490","UPHENO:0004888","UPHENO:0004721","UPHENO:0001002","UBERON:0000923","UBERON:0007823","UBERON:0007376","UPHENO:0004900","UPHENO:0004482","UPHENO:0002567","UPHENO:0087660","UPHENO:0004404","UPHENO:0003163","UPHENO:0003071","UBERON:0013702","UPHENO:0004680","UPHENO:0011552","UPHENO:0081581","HP:0045075","UBERON:0004111","UBERON:0001037","UPHENO:0087006","UBERON:0000075","UPHENO:0003236","UBERON:0005291","UPHENO:0002571","UPHENO:0087435","UBERON:0000014","HP:0011138","UPHENO:0002867","UPHENO:0002651","UBERON:0000468","UBERON:0013522","UPHENO:0011536","UPHENO:0002830","UBERON:0000466","UPHENO:0002531","HP:0100133","UPHENO:0087928","UPHENO:0002765","UBERON:0000025","UPHENO:0003054","UPHENO:0076771","UBERON:0004357","UPHENO:0076739","UBERON:0000001","HP:0000951","BFO:0000002","UPHENO:0011535","UPHENO:0002747","UBERON:0006598","HP:0000118","UBERON:0000922","UBERON:0001705","UBERON:0001444","UPHENO:0087852","UPHENO:0002635","UBERON:0010708","BFO:0000040","UBERON:0010314","HP:0008070","UPHENO:0002552","HP:0002215","UPHENO:0001003","UBERON:0016447","HP:0032039","UBERON:0002199","UPHENO:0087665","UBERON:0000467","UPHENO:0002525","UPHENO:0002962","BFO:0000004","UPHENO:0011560","UPHENO:0002648","UBERON:0000465","UBERON:0010164","UPHENO:0002764","UBERON:0000061","UBERON:0004121","UBERON:0000062","UPHENO:0011498","UPHENO:0076803","UBERON:0002529","UBERON:0034929","UBERON:0003056","UBERON:0000153","UBERON:0000475","HP:0100134","UPHENO:0003037","UPHENO:0002740","UPHENO:0002526","UPHENO:0075889","UPHENO:0004704","UBERON:0015212","UBERON:0010323","UBERON:0002416","HP:0002231","UPHENO:0076761","UBERON:0011676","UPHENO:0086722","UPHENO:0086546","UPHENO:0011572","UBERON:0004708","UBERON:0004347","UPHENO:0002905","UPHENO:0086679","UPHENO:0075997","UPHENO:0004433","UBERON:0002470","UBERON:0000064","UBERON:0009551","UPHENO:0003065","UBERON:0000026","UBERON:5002544","UBERON:0000047","UBERON:0005881","UPHENO:0003722","UPHENO:0002976","UPHENO:0003334","UPHENO:0004519","UPHENO:0002944","UPHENO:0086769","UPHENO:0088109","UPHENO:0004064","UBERON:0010758","UBERON:0010130","UBERON:0000167","UPHENO:0002945","UPHENO:0003186","UBERON:0009564","UPHENO:0086700","UPHENO:0086635","UBERON:0001007","UBERON:0002544","UBERON:0002104","UBERON:0001434","UPHENO:0002844","UBERON:0016879","UBERON:0034921","UPHENO:0004615","UPHENO:0002768","UBERON:0001032","UBERON:0009472","HP:0000499","HP:0000492","UBERON:0003072","UBERON:0001048","UPHENO:0003095","UBERON:0003075","UBERON:0000033","UPHENO:0086475","UPHENO:0003811","UPHENO:0005097","HP:0200102","UPHENO:0003076","UPHENO:0005092","UPHENO:0002643","UPHENO:0005141","UBERON:0034925","UPHENO:0075878","UPHENO:0002733","UBERON:0010312","UBERON:0004128","UBERON:0034923","UBERON:0003071","UPHENO:0002994","UBERON:0004734","UPHENO:0002530","UPHENO:3000000","UPHENO:0086485","UBERON:0002346","UPHENO:0005055","UBERON:0010371","UPHENO:0087907","HP:0000234","UBERON:0016880","UBERON:0000020","UPHENO:0002910","UPHENO:0086589","UPHENO:0004757","UBERON:0000924","HP:0000271","UBERON:0011932","HP:0000653","BFO:0000141","UPHENO:0002859","UBERON:0000165","UPHENO:0003025","UPHENO:0005319","UPHENO:0005058","NCBITaxon:6072"],"has_phenotype_closure_label":["collection of hair on face","eyebrow","collection of hairs on head or neck","aplasia or hypoplasia of eyebrow","eyebrow morphology phenotype","tube phenotype","anatomical space phenotype","subdivision of digestive tract phenotype","subdivision of tube","subdivision of digestive tract","cranial skeletal system","digestive system morphology phenotype","oral cavity morphology phenotype","anatomical conduit phenotype","dentition phenotype","subdivision of skeletal system phenotype","digestive system","musculoskeletal system","oral cavity phenotype","mouth","skeletal system phenotype","Abnormality of the mouth","subdivision of skeletal system","anatomical conduit","dentition","mouth morphology phenotype","orbital region","eye primordium","primordium","Eukaryota","simple eye phenotype","multi-tissue structure phenotype","cranial skeletal system phenotype","sensory system phenotype","disconnected anatomical group","multi organ part structure phenotype","Abnormal oral morphology","Sparse or absent 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reduced visual acuity","absent multicellular organismal process","Abnormal retinal vascular morphology","Blindness","biological_process","circulatory system phenotype","occurrent","structure with developmental contribution from neural crest","central nervous system morphology phenotype","visual perception","neuroectoderm","sensory perception","vasculature of retina phenotype","orbital region","decreased qualitatively nervous system process","nervous system process","sensory perception phenotype","retina","system process phenotype","pre-chordal neural plate phenotype","Abnormal eye physiology","artery phenotype","continuant","decreased qualitatively sensory perception","system process"],"has_descendant":["MONDO:0011564"],"has_descendant_label":["cone-rod dystrophy 8"],"has_descendant_count":1,"score":null,"highlighting":{}},{"id":"MONDO:0011566","category":"biolink:Disease","name":"abdominal obesity-metabolic syndrome quantitative trait locus 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entity","multicellular organism phenotype","phenotypic effect","circulatory system","material anatomical entity","All","anatomical entity physiology phenotype","Increased blood pressure","multicellular anatomical structure mass phenotype","anatomical entity phenotype","structure with developmental contribution from neural crest","increased anatomical structure mass","vascular system","subdivision of trunk","Abnormality of the cardiovascular system","anatomical structure","organism substance","Abdominal obesity","Hypertension","size of multicellular organism phenotype","continuant","blood","entity","body proper","multicellular anatomical structure phenotype","anatomical entity","cardiovascular system physiology phenotype","anatomical cluster","anatomical conduit","anatomical system physiology phenotype","material anatomical entity phenotype","cardiovascular system","hypertension","abdomen","anatomical system phenotype","circulatory system phenotype","mesoderm-derived structure","material anatomical entity physiology phenotype","increased material anatomical entity mass","trunk","abdominal segment of trunk","multicellular anatomical structure","Growth abnormality","independent continuant","anatomical structure physiology phenotype","vessel","anatomical entity mass phenotype","biological_process phenotype","structure with developmental contribution from neural crest physiology phenotype","disconnected anatomical group","gross anatomical part","taxon specific phenotype","multicellular organism","hemolymphoid system","hematopoietic system","structure with developmental contribution from neural crest phenotype","material anatomical entity mass phenotype","Phenotypic abnormality","vasculature","bodily fluid","haemolymphatic fluid","increased anatomical entity mass"],"has_descendant":["MONDO:0011566"],"has_descendant_label":["abdominal obesity-metabolic syndrome quantitative trait locus 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anatomical entity physiology phenotype","multicellular anatomical structure physiology phenotype","trunk region element","decreased functionality of the myocardium","multicellular organismal process","material entity","organ system subdivision phenotype","embryo","decreased system process","cardiogenic plate morphology phenotype","anatomical entity physiology phenotype","organ component layer physiology phenotype","subdivision of organism along main body axis phenotype","embryonic tissue morphology phenotype","heart tube","viscus phenotype","size of heart phenotype","thoracic cavity element phenotype","embryonic structure","organ part","anlage","cardiovascular system morphology phenotype","increased size of the anatomical structure","splanchnic layer of lateral plate mesoderm","muscle structure phenotype","germ layer / neural crest","organism subdivision phenotype","primary heart field","musculature phenotype","multicellular organism","cardiogenic plate","thoracic segment 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O:0073937","UPHENO:0050613","HP:0000925","UBERON:0013701","UBERON:0011138","UBERON:0002090","UBERON:0007285","UPHENO:0003182","UPHENO:0014133","UPHENO:0002644","UBERON:0003059","UPHENO:0002813","HP:0009121","UPHENO:0003191","UBERON:0004375","GO:0043005","UPHENO:7000390","UBERON:0003077","UBERON:0003089","UPHENO:0004047","UPHENO:0013973","UPHENO:0069639","UBERON:0003104","UBERON:0004470","UBERON:0001497","UPHENO:0002847","UPHENO:0002897","UBERON:0000154","UPHENO:0003101","UPHENO:7000383","UPHENO:0014092","UBERON:0010709","HP:0001469","UPHENO:0069436"],"has_phenotype_closure_label":["cellular_component degeneration","anatomical entity degeneration","material anatomical entity degeneration","Axonal degeneration","Hand muscle weakness","Toe extensor amyotrophy","Abnormality of the foot musculature","Foot dorsiflexor weakness","Lower limb muscle weakness","Distal lower limb muscle weakness","decreased pelvic complex muscle strength","Motor axonal neuropathy","Hand muscle atrophy","pectoral appendage musculature atrophy","Abnormality of the musculature of the upper limbs","Abnormality of the upper limb","musculature of manus phenotype","manus","upper limb segment phenotype","arm","Abnormality of the musculature of the hand","decreased size of the pectoral appendage musculature","Upper limb amyotrophy","musculature of upper limb atrophy","Abnormality of the hand","musculature of manus","upper limb segment","Distal upper limb amyotrophy","musculature of hindlimb stylopod phenotype","musculature of hindlimb stylopod","hindlimb stylopod morphology phenotype","musculature of hindlimb stylopod morphology phenotype","Abnormal calf musculature morphology","muscle of leg atrophy","zeugopod phenotype","hindlimb muscle atrophy","hindlimb zeugopod muscle","pelvic appendage musculature phenotype","pelvic appendage muscle atrophy","limb muscle atrophy","limb muscle morphology phenotype","peroneus atrophy","Peroneal muscle atrophy","peroneus","musculature of hindlimb zeugopod","hindlimb zeugopod muscle phenotype","hindlimb muscle","pelvic appendage musculature","hindlimb zeugopod","hindlimb zeugopod muscle atrophy","hindlimb zeugopod phenotype","musculature of leg phenotype","musculature of lower limb phenotype","musculature of lower limb","zeugopod","Abnormality of the musculature of the lower limbs","Abnormality of the hip-girdle musculature","trunk region element phenotype","pelvic region element atrophy","muscle structure atrophy","abdominal segment of trunk","muscle organ atrophy","skeletal muscle organ, vertebrate phenotype","musculature of pelvic complex","musculature of trunk","abdominal segment element atrophy","trunk region element","trunk region element atrophy","skeletal muscle of trunk phenotype","decreased size of the skeletal muscle of trunk","decreased size of the skeletal muscle organ, vertebrate","decreased size of the abdominal segment element","shape of continuant phenotype","shape of anatomical entity phenotype","multicellular anatomical structure, curved phenotype","Diminished deep tendon reflex","longitudinal arch of pes","paraxial mesoderm morphology phenotype","Distal upper limb muscle weakness","bone of appendage girdle complex phenotype","curved anatomical entity","pectoral appendage bud phenotype","curvature anatomical entity","response to external stimulus","musculoskeletal movement","material anatomical entity atrophy","skeleton phenotype","decreased size of the musculature of pectoral complex","hindlimb bud phenotype","nervous system phenotype","reflex","subdivision of trunk","anatomical structure physiology phenotype","paired limb/fin segment","decreased number of anatomical entity","anatomical system physiology phenotype","hindlimb zeugopod morphology phenotype","limb skeleton subdivision phenotype","neuromuscular process","organ system subdivision physiology phenotype","presumptive paraxial mesoderm phenotype","Abnormality of movement","peripheral nervous system axon ensheathment","neuromuscular process phenotype","eukaryotic cell","nervous system process phenotype","multicellular organismal movement phenotype","multicellular organismal process phenotype","Areflexia","biological_process phenotype","pedal digit plus metapodial segment","voluntary movement behavior phenotype","multicellular organism development","response to stimulus phenotype","Distal amyotrophy","limb phenotype","structure with developmental contribution from neural crest phenotype","Hammertoe","cellular developmental process","behavior phenotype","musculoskeletal system phenotype","organ system subdivision","limb endochondral element phenotype","anatomical entity morphology in the pelvic complex phenotype","subdivision of skeletal system, curved phenotype","pes morphology phenotype","musculoskeletal movement phenotype","morphology of axon phenotype","forelimb morphology phenotype","mesenchyme morphology phenotype","germ layer / neural crest phenotype","embryo phenotype","Abnormal peripheral myelination","kinesthetic behavior","musculature of body","embryo","multicellular organism","nervous system morphology phenotype","electrically active cell","autopodial extension phenotype","musculature of limb atrophy","musculature of body phenotype","arm phenotype","Abnormal reflex","skeletal musculature","musculature atrophy","endochondral bone phenotype","digit morphology phenotype","All","axon","paired limb/fin skeleton phenotype","anatomical collection","developing mesenchymal condensation phenotype","Abnormality of limb bone","Decreased amplitude of sensory action potentials","limb segment","increased curvature longitudinal arch of pes","anatomical entity morphology phenotype","neuron","anatomical system phenotype","Sensory axonal neuropathy","process","multicellular anatomical structure","Abnormality of the nervous system","occurrent","limb morphology phenotype","skeletal muscle of trunk","response to external stimulus phenotype","acropodium region","pedal digit phenotype","Peripheral axonal degeneration","appendicular skeleton","limb skeleton subdivision","decreased number of myelinated nerve fiber in the nerve","paired limb/fin segment phenotype","absent response to external stimulus","organ system subdivision phenotype","lateral plate mesoderm morphology phenotype","autopod region morphology phenotype","Abnormality of limbs","skeletal element","multicellular organismal movement","musculature phenotype","body part movement","decreased biological_process","trunk phenotype","gross anatomical part","paired limb/fin","Abnormal limb bone morphology","muscle structure","Somatic sensory dysfunction","involuntary movement behavior","appendicular skeleton morphology phenotype","absent biological_process","appendage","pes phenotype","autopod region phenotype","Proximal muscle weakness","hindlimb bud","subdivision of trunk phenotype","organism subdivision","anatomical entity morphology in the appendage girdle complex phenotype","biological_process rate phenotype","paired limb/fin phenotype","morphology of neuron projection phenotype","cell condensation phenotype","subdivision of skeletal system","limb bone morphology phenotype","Shoulder girdle muscle atrophy","decreased number of anatomical entity in the nerve","pes","hindlimb morphology phenotype","taxon specific phenotype","Toe deformity","pedal digit morphology phenotype","Abnormal nerve conduction velocity","material anatomical entity","autopod region","multicellular organismal process","digit plus metapodial segment","anatomical structure atrophy","material entity","Abnormal curvature of the vertebral column","anatomical structure","phenotype","appendage musculature phenotype","tissue phenotype","neural cell","pelvic appendage bud","decreased size of the trunk region element","Abnormality of the skeletal system","appendage phenotype","limb bone phenotype","system","skeletal system morphology phenotype","Abnormal skeletal morphology","anatomical structure phenotype","decreased size of the muscle structure","posterior region of body","nerve fiber","developing anatomical structure","phenotypic effect","Pelvic girdle muscle atrophy","limb","decreased musculature of upper limb strength","mesoderm-derived structure phenotype","system process phenotype","bone of appendage girdle complex","hindlimb bud morphology phenotype","bone of free limb or fin","leg phenotype","anatomical structure, curved phenotype","musculoskeletal system","decreased size of the anatomical entity in the pectoral complex","hindlimb","pectoral appendage phenotype","mesenchyme","migrating mesenchyme population","subdivision of organism along appendicular axis phenotype","organ phenotype","limb bud morphology phenotype","axon degeneration","embryonic structure","anatomical entity","decreased qualitatively response to external stimulus","size of anatomical entity phenotype","multicellular anatomical structure phenotype","response to stimulus","humpback; kyphosis","nerve","subdivision of organism along main body axis phenotype","muscle of pelvic girdle atrophy","paired limb/fin bud","hindlimb zeugopod muscle morphology phenotype","limb endochondral element","lateral structure phenotype","germ layer phenotype","embryonic structure phenotype","skeleton of limb","dense mesenchyme tissue","musculature of pectoral complex","subdivision of skeleton phenotype","system development","appendage girdle region","voluntary musculoskeletal movement","Abnormal foot morphology","decreased number of multi cell part structure in the nerve","glial cell development","embryonic tissue morphology phenotype","mesoderm-derived structure","segment of pes","Abnormal peripheral nervous system physiology","lateral structure","musculature","developing anatomical structure phenotype","shape of longitudinal arch of pes phenotype","limb bone","abdominal segment element phenotype","nervous system development","Hyporeflexia","endochondral element phenotype","limb segment phenotype","tissue","peripheral nervous system development","presomitic mesoderm morphology phenotype","manus morphology phenotype","Abnormality of the musculoskeletal system","lower limb segment","digit","pelvic complex muscle","multicellular anatomical structure physiology phenotype","biological_process in peripheral nervous system phenotype","subdivision of skeletal system, increased curvature phenotype","decreased number of material anatomical entity","embryo morphology phenotype","ensheathment of neurons phenotype","entity","lateral plate mesoderm phenotype","anatomical entity morphology in the manus phenotype","absent reflex","Axonal loss","skeletal system","pedal digitopodium region","nervous system","appendage musculature atrophy","pelvic appendage","embryonic tissue phenotype","digitopodium region","morphology of cellular_component phenotype","appendage girdle complex","subdivision of skeletal system phenotype","material anatomical entity, curved phenotype","mesoderm","appendicular skeleton phenotype","anatomical entity phenotype","presumptive structure","reflex phenotype","lateral plate mesoderm","appendage girdle region phenotype","hindlimb phenotype","skeletal musculature phenotype","pectoral girdle region","voluntary musculoskeletal movement phenotype","pelvic appendage phenotype","Abnormal myelination","limb muscle","organ","anatomical structure degeneration","decreased number of anatomical entity in the multicellular organism","multi-limb segment region","pelvic complex","decreased qualitatively biological_process","endochondral element","germ layer / neural crest","axial skeleton plus cranial skeleton morphology phenotype","multicellular anatomical structure atrophy","dense mesenchyme tissue phenotype","mesenchyme phenotype","Kyphoscoliosis","voluntary movement behavior","anatomical system","animal gross anatomical part developmental process","limb bud","musculature of trunk phenotype","decreased size of the organ","Abnormality of the vertebral column","behavior process phenotype","skeleton","stylopod","musculature of hip","skeletal element phenotype","presumptive structure phenotype","anatomical entity physiology phenotype","electrically signaling cell","paraxial mesoderm phenotype","autopodial extension","Aplasia/Hypoplasia of the musculature of the pelvis","appendicular skeletal system","absent response to stimulus","appendage musculature","segment of autopod","embryonic tissue","reflexive behavior","decreased qualitatively reflex","Abnormal peripheral nervous system morphology","organ system subdivision, increased curvature phenotype","Abnormal toe morphology","embryonic autopod plate morphology phenotype","neurogenesis","postcranial axial skeletal system","organ physiology phenotype","plasma membrane bounded cell projection","continuant","axon ensheathment phenotype","abdominal segment muscle phenotype","germ layer","Proximal lower limb amyotrophy","Schwann cell development","multicellular organism morphology phenotype","structure with developmental contribution from neural crest","leg","Abnormal appendicular skeleton morphology","paired limb/fin bud phenotype","decreased anatomical entity strength","endochondral bone","material anatomical entity physiology phenotype","material anatomical entity, increased curvature phenotype","sclerotome","paired limb/fin skeleton","limb bud phenotype","Abnormal digit morphology","Abnormal peripheral action potential amplitude","decreased qualitatively response to stimulus","musculature of pes phenotype","decreased response to external stimulus","decreased response to stimulus","decreased reflex","peripheral nervous system","Abnormal nervous system morphology","Peripheral axonal atrophy","anatomical cluster","forelimb bud morphology phenotype","Abnormality thigh musculature morphology","peripheral nervous system phenotype","peripheral nervous system morphology phenotype","postcranial axial skeleton","musculature of hip phenotype","EMG abnormality","nerve conduction; nerve conduction velocity","muscle organ phenotype","muscle structure phenotype","muscle structure physiology phenotype","presomitic mesoderm phenotype","muscle organ physiology phenotype","increased curvature anatomical entity","muscle of pelvic girdle","EMG: axonal abnormality","muscle organ","Proximal lower limb muscle weakness","Abnormality of peripheral nervous system electrophysiology","anatomical entity morphology in the pectoral complex phenotype","longitudinal arch of pes, curved phenotype","Skeletal muscle atrophy","organ system subdivision, curved phenotype","decreased size of the organ system subdivision","musculature of limb phenotype","Decreased number of small peripheral myelinated nerve fibers","musculature of limb","musculature of pelvic girdle","nervous system physiology phenotype","Abnormal skeletal muscle morphology","digit phenotype","bone element phenotype","decreased size of the appendage musculature","organ system subdivision atrophy","decreased size of the anatomical structure","decreased size of the material anatomical entity in the pectoral complex","electrically responsive cell","axial skeletal system","vertebral column","anatomical entity atrophy","Abnormality of the musculature","myelination phenotype","Limb-girdle muscle atrophy","musculature of pectoral complex atrophy","nerve fasciculus","Gait disturbance","biological_process in nervous system phenotype","decreased size of the material anatomical entity","hindlimb stylopod muscle","lower limb segment phenotype","cell","musculature of pectoral complex phenotype","decreased size of the anatomical entity","decreased size of the multicellular anatomical structure in the pectoral complex","muscle of leg","muscle organ morphology phenotype","ensheathment of neurons","decreased size of the anatomical structure in the pectoral complex","germ layer morphology phenotype","subdivision of organism along main body axis","multicellular organism phenotype","Abnormal appendicular muscle morphology","pectoral complex","skeletal musculature atrophy","decreased number of anatomical structure in the multicellular organism","musculature of pes","system process","number of anatomical enitites of type anatomical structure phenotype","cellular process phenotype","behavior process","pectoral appendage bud","number of anatomical enitites of type anatomical entity phenotype","decreased number of multi cell part structure","Proximal amyotrophy","Pes cavus","multicellular anatomical structure, increased curvature phenotype","neuron projection bundle","myelinated nerve fiber","multi cell part structure","number of anatomical enitites of type material anatomical entity phenotype","pelvic complex muscle atrophy","myelination in peripheral nervous system phenotype","Schwann cell differentiation","decreased size of the pelvic region element","gliogenesis","mesoderm phenotype","musculature of pectoral girdle","pectoral appendage musculature","mesoderm morphology phenotype","decreased size of the multicellular anatomical structure","somite","myelination in peripheral nervous system","Decreased number of peripheral myelinated nerve fibers","peripheral nervous system neuron","peripheral nervous system physiology phenotype","skeletal muscle organ, vertebrate atrophy","decreased number of anatomical structure","hindlimb stylopod","peripheral nervous system axon ensheathment phenotype","musculature of leg","Decreased number of large peripheral myelinated nerve fibers","Upper limb muscle weakness","nerve phenotype","musculature of pelvic complex phenotype","neuron projection bundle phenotype","nervous system process","Abnormal nervous system physiology","multi cell part structure phenotype","cellular process","developmental process","decreased number of material anatomical entity in the multicellular organism","forelimb","anatomical structure development","glial cell differentiation","myelination","Abnormal muscle physiology","number of anatomical enitites of type multi cell part structure phenotype","biological_process","multi-limb segment region phenotype","cell development","pectoral girdle region phenotype","cell differentiation","Peripheral axonal neuropathy","axon ensheathment","material anatomical entity phenotype","decreased number of nerve fiber in the nerve","Onion bulb formation","cellular_component phenotype","organism subdivision phenotype","sensory nerve","Abnormality of the peripheral nervous system","manus phenotype","damaged anatomical entity in the sensory nerve","subdivision of organism along appendicular axis","bone 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phenotype","body proper","independent continuant","transmission of nerve impulse","kyphoscoliosis","musculature of manus atrophy","Abnormal morphology of the pelvis musculature","decreased size of the musculature","scoliosis","trunk mesenchyme","disconnected anatomical group","paraxial mesoderm","pelvic region element phenotype","epithelial vesicle phenotype","Inability to walk","embryonic autopod plate","muscle of pelvis","behavior","pelvic girdle region","abdominal segment muscle atrophy","cell condensation","pelvic region element","muscle of pelvis atrophy","abdominal segment muscle","skeletal muscle organ, vertebrate","organ atrophy","abdominal segment element","Axonal degeneration/regeneration","pelvic region of trunk"],"has_descendant":["MONDO:0011569"],"has_descendant_label":["Charcot-Marie-Tooth disease type 2B1"],"has_descendant_count":1,"score":null,"highlighting":{}},{"id":"MONDO:0011570","category":"biolink:Disease","name":"Charcot-Marie-Tooth disease type 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of hair on face","Sparse eyebrow","collection of hairs on head or neck","aplasia or hypoplasia of eyebrow","eyebrow morphology phenotype","size of face phenotype","Large face","subarachnoid space","Abnormal subarachnoid space morphology","subarachnoid space morphology phenotype","meningeal cluster","shape of head phenotype","Prominent forehead","trunk","dermis phenotype","migrating mesenchyme population","epithelial vesicle","multilaminar epithelium","presomitic mesoderm phenotype","trunk phenotype","multilaminar epithelium phenotype","cell condensation","presomitic mesoderm","zone of bone organ phenotype","supraorbital ridge hypoplasia","somite phenotype","developing mesenchymal condensation","migrating mesenchyme population phenotype","supraorbital ridge","dermatome phenotype","developing mesenchymal condensation phenotype","U-Shaped upper lip vermilion","tragus phenotype","Abnormal tragus morphology","pinna","tragus","reproductive process phenotype","Growth delay","asexual reproduction","reproductive process","decreased reproductive process","delayed growth","decreased asexual reproduction","Postnatal growth retardation","penis phenotype","Abnormal penis morphology","penis","intromittent organ phenotype","intromittent organ","Solitary median maxillary central incisor","incisor tooth phenotype","Abnormal number of incisors","number of anatomical enitites of type structure with developmental contribution from neural crest phenotype","Abnormality of the incisor","nose hypoplasia","Downturned corners of mouth","Abnormality of mouth shape","shape of mouth phenotype","Underdeveloped supraorbital ridges","sorocarp development","biological process involved in intraspecies interaction between organisms","delayed sorocarp development","delayed anatomical structure development","Neurodevelopmental delay","sorocarp development phenotype","socially cooperative development phenotype","anatomical structure development phenotype","biological process involved in intraspecies interaction between organisms phenotype","Seizure","Neurodevelopmental abnormality","cognition","Abnormal nervous system physiology","Abnormality of mental function","Intellectual disability","Decreased external ear position","Low-set ears","Decreased anatomical entity position","anatomical line","increased length of the anatomical line","increased size of the non-material anatomical boundary","anatomical line between pupils","Hypertelorism","non-material anatomical boundary","increased length of the anatomical line between pupils","increased height of the multi-tissue structure","increased size of the multi-tissue structure","increased height of the multicellular anatomical structure","increased height of the anatomical entity","anatomical entity height phenotype","increased height of the anatomical structure","increased height of the secondary palate","increased height of the material anatomical entity","drooping eyelid","Ptosis","head or neck skin","increased length of the organ part","increased length of the anatomical structure","increased length of the material anatomical entity","increased length of the epicanthal fold","increased length of the multicellular anatomical structure","penis hypoplasia","increased length of the zone of organ","skin of face morphology phenotype","increased length of the skin of face","Epicanthus","increased length of the structure with developmental contribution from neural crest","increased size of the zone of organ","increased length of the head or neck skin","increased length of the skin of head","skin of head","increased length of the skin of eyelid","increased size of the structure with developmental contribution from neural crest","skin of eyelid","skin of face","increased length of the zone of skin","white matter of telencephalon","commissure of telencephalon","corpus callosum morphology phenotype","white matter of telencephalon phenotype","cerebral hemisphere white matter phenotype","brain commissure morphology phenotype","aplasia or hypoplasia of corpus callosum","dorsal telencephalic commissure morphology phenotype","white matter of forebrain phenotype","intercerebral commissure phenotype","white matter phenotype","Abnormal cerebral white matter morphology","Abnormal cerebral subcortex morphology","Abnormal forebrain morphology","brain white matter morphology phenotype","corpus callosum","growth phenotype","Thin corpus callosum","High palate","Hypoplasia of the corpus callosum","brain white matter","nervous system commissure","white matter","Abnormal corpus callosum morphology","Aplasia/Hypoplasia of the cerebrum","cerebral hemisphere white matter","dorsal telencephalic commissure","nervous system commissure phenotype","Abnormal cerebral morphology","commissure of telencephalon phenotype","brain commissure phenotype","brain commissure","corpus callosum hypoplasia","tract of brain phenotype","Orofacial cleft","chemosensory system","Anteverted nares","somite","external nose phenotype","Abnormal morphology of the nasal alae","external naris phenotype","aplasia or hypoplasia of telencephalon","ala of nose phenotype","olfactory system","ala of nose","ala of nose morphology phenotype","lobe of cerebral hemisphere","Abnormal frontal bone morphology","chemosensory system phenotype","gray matter of telencephalon","flat bone phenotype","forebrain morphology phenotype","shape of frontal cortex phenotype","frontal cortex","frontal lobe","intramembranous bone","cerebral cortex morphology phenotype","Abnormal shape of the frontal region","neocortex","pallium","cerebral cortex","nervous system cell part layer","cerebral hemisphere","Frontal bossing","telencephalon morphology phenotype","cerebral hemisphere gray matter","gray matter of forebrain","frontal cortex morphology phenotype","central nervous system gray matter layer phenotype","external nose morphology phenotype","increased length of the surface groove","increased length of the philtrum","increased length of the immaterial anatomical entity","Long philtrum","size of skull phenotype","Macrocephaly","Increased head circumference","increased size of the subdivision of organism along main body axis","rotated anatomical entity","rotated external ear","Abnormal location of ears","posteriorly rotated ears","trunk mesenchyme phenotype","Posteriorly rotated ears","periorbital region","spatial pattern of anatomical entity phenotype","location of anatomical entity phenotype","Abnormal external nose morphology","Slanting of the palpebral fissure","palpebral fissure","Upslanted palpebral fissure","palpebral fissure phenotype","vascular plexus","bodily fluid","vasculature","bodily fluid phenotype","Abnormal cerebrospinal fluid morphology","central nervous system gray matter layer","vasculature phenotype","hemolymphoid system","circulatory system phenotype","forebrain","increased number of ventricle of nervous system in the cerebrospinal fluid","increased number of material anatomical entity in the cerebrospinal fluid","blood","hematopoietic system","tract of brain","vascular plexus phenotype","increased number of brain ventricle/choroid plexus in the cerebrospinal fluid","cerebral cortex phenotype","cerebrospinal fluid morphology phenotype","Abnormality of the periorbital region","blood island","cerebrospinal fluid","skin of head morphology phenotype","increased number of organ component layer in the cerebrospinal fluid","vasculature of central nervous system plus retina","hematopoietic system phenotype","vasculature of organ phenotype","increased number of organ component layer","telencephalon","forebrain phenotype","limb bone phenotype","system","increased number of anatomical entity","manual digit phalanx endochondral element","external integument structure phenotype","non-material anatomical boundary phenotype","autopod bone","multicellular organism morphology phenotype","digestive system phenotype","cell condensation phenotype","increased number of manual digit 1 or 5 in the manus","dermatome","increased number of multicellular anatomical structure","Abnormal male external genitalia morphology","cerebral hemisphere morphology phenotype","increased number of brain ventricle in the cerebrospinal fluid","Abnormal limb bone morphology","increased number of digit 5 in the manus","external ectoderm","Abnormal finger morphology","pectoral appendage phenotype","limb segment phenotype","endochondral element phenotype","autopod endochondral element","Abnormality of head or neck","flat bone","bone of pectoral complex","posterior cranial fossa","camera-type eye physiology phenotype","forelimb bud phenotype","skeleton of limb phenotype","manual digit 5 morphology phenotype","increased number of autopodial extension in the manus","immaterial entity","brain ventricle","increased number of multicellular anatomical structure in the manus","nose phenotype","size of eyeball of camera-type eye phenotype","Broad forehead","increased number of anatomical structure in the cerebrospinal fluid","decreased width of the multi-tissue structure","decreased width of the roof of mouth","sclerotome phenotype","Abnormal axial skeleton morphology","secondary palate morphology phenotype","integumentary adnexa","roof of mouth","Abnormal palate morphology","ventricular system of brain","Narrow palate","down-turned corners of mouth; downturned corners of mouth","Abnormality of the hand","digit phenotype","bone element phenotype","neural tube morphology phenotype","Hand polydactyly","skin epidermis","midface","integumentary adnexa morphology phenotype","number of anatomical enitites of type calcareous tooth phenotype","Abnormal eyelid morphology","integument phenotype","integument","eyelash phenotype","outer epithelium phenotype","lateral plate mesoderm","morphological feature","ectodermal placode","Abnormal ocular adnexa morphology","limb endochondral element","developing mesenchymal structure","Microdontia","upper limb segment","eyelash morphology phenotype","Growth abnormality","gray matter of forebrain phenotype","Cerebellar cyst","outer epithelium","chordate embryonic development","mesoderm phenotype","Abnormality of upper lip vermillion","cranium","head mesenchyme morphology phenotype","number of anatomical enitites of type integumentary projection phenotype","integumentary projection phenotype","integumental system","ectoderm-derived structure phenotype","manual digit 5","organ subunit phenotype","Aplasia/Hypoplasia of the corpus callosum","neural crest-derived structure phenotype","number of anatomical enitites of type integumentary adnexa phenotype","animal gross anatomical part developmental process","epithelial fold","zone of skin","phalanx endochondral element","skeletal system","proboscis","dermal bone","skin of body phenotype","Abnormal pinna morphology","appendage phenotype","immaterial anatomical entity","number of anatomical enitites of type tooth-like structure phenotype","neural plate phenotype","decreased qualitatively multicellular organismal process","ocular adnexa","strand of hair phenotype","increased width of anatomical cavity","roof of mouth morphology phenotype","manual digit 1 or 5","growth","subdivision of organism along appendicular axis phenotype","Abnormality of the upper limb","Sparse hair","cutaneous appendage","tube closure","malformed cranial fossa","Iris coloboma","tube development","multicellular organism development","subdivision of digestive tract phenotype","anatomical collection","Encephalocele","craniofacial/craniocervical phenotype","organ subunit","tissue morphogenesis","embryonic morphogenesis","system development","incomplete closing of the roof of mouth","increased number of anatomical entity in the blood","brain","surface groove","Abnormal cranial suture/fontanelle morphology","nasal bridge morphology phenotype","postcranial axial skeletal system","neural tube morphology","Abnormal cerebellar vermis morphology","anatomical structure formation involved in morphogenesis","Abnormality of the integument","anatomical structure development","neural tube formation","visual perception phenotype","cranial skeletal system","limb skeleton subdivision phenotype","appendicular skeleton","skull","anterior neural tube","coat of hair","skull phenotype","phalanx","musculature phenotype","brain white matter phenotype","musculature of body phenotype","anatomical conduit","central nervous system phenotype","paired limb/fin phenotype","manus morphology phenotype","cutaneous appendage phenotype","anatomical entity morphology phenotype","optic cup morphology phenotype","Abnormal skin adnexa morphology","embryonic epithelial tube formation","neural tube development","decreased width of the anatomical structure","segmental subdivision of nervous system phenotype","shape of eyelid phenotype","anterior region of body","subdivision of head phenotype","appendage girdle complex","epithelial tube phenotype","musculoskeletal system","Cerebellar hypoplasia","neocortex morphology phenotype","manus phenotype","Abnormality of the dentition","tube closure phenotype","head bone morphology phenotype","Abnormal skeletal morphology","external soft tissue zone phenotype","manual digit digitopodial skeleton","encephalocele; encephalomeningocele","telencephalon phenotype","tube formation phenotype","germ layer","limb bone","eye phenotype","increased number of anatomical entity in the appendage girdle complex","neural tube closure phenotype","vasculature of central nervous system plus retina phenotype","aplasia or hypoplasia of anatomical entity","mesoderm","neural tube","acropodium region","olfactory system phenotype","Abnormal nervous system morphology","skeletal system phenotype","blastula","cranial neuron projection bundle","Open neural tube defect","Conductive hearing impairment","skeletal system morphology phenotype","subdivision of skeletal system","zone of organ","upper lip","protruding anatomical entity","pharyngeal arch 1 phenotype","increased size of the anatomical space","digestive tract epithelium","anatomical space phenotype","eyelid","digit 5","male reproductive system phenotype","anatomical space","increased width of immaterial anatomical entity","anatomical cavity","organism substance phenotype","skeleton of manual digitopodium","nervous system physiology phenotype","calcareous tooth phenotype","developmental or adult structural  defect","Abnormal external genitalia morphology","tetrapod frontal bone","pharyngeal arch phenotype","appendage","surface structure phenotype","maxillary prominence morphology phenotype","lip phenotype","paired limb/fin bud phenotype","eyelid morphology phenotype","pharyngeal region of foregut","forelimb endochondral element","gross anatomical part","Abnormal oral cavity morphology","increased number of manual digit in the manus","surface groove phenotype","oral cavity morphology phenotype","anatomical conduit phenotype","central nervous system morphology phenotype","Postaxial hand polydactyly","increased size of the zone of skin","Abnormality of the palpebral fissures","forelimb long bone","increased number of autopodial extension","facial skeleton phenotype","non-connected functional system","central nervous system","skin epidermis phenotype","anterior neural tube phenotype","Metazoa","Abnormal eye morphology","anatomical collection phenotype","pectoral appendage bud","absent material anatomical entity in the face","Abnormality of the skeletal system","anatomical projection phenotype","embryo development ending in birth or egg hatching","organ part","cerebral hemisphere white matter morphology phenotype","size of anatomical entity phenotype","embryo phenotype","continuant","absent organ","Aplasia/Hypoplasia of the cerebellum","orbital region phenotype","neurocranium morphology phenotype","incomplete closing of the iris","coat of hair morphology phenotype","decreased sensory perception","protuberance","craniofacial suture","embryonic tissue","Hearing abnormality","bone of free limb or fin","camera-type eye","Abnormal facial shape","Enlarged posterior fossa","fourth ventricle phenotype","epithelium","ectoderm","Tessier cleft","lip morphology phenotype","sparse hair","increased number of multicellular anatomical structure in the limb","neurocranium bone phenotype","maxillary prominence","tetrapod frontal bone phenotype","male reproductive organ phenotype","sclerotome","vision/eye phenotype","aplasia or hypoplasia of eyeball of camera-type eye","absent anatomical structure in the head","nervous system morphology phenotype","digit 5 plus metapodial segment","axial skeletal system","anatomical cluster phenotype","absent anatomical structure in the multicellular organism","absent anatomical structure in the tissue","limb long bone","dilated brain ventricle","upper lip morphology phenotype","dermatocranium","Opisthokonta","foregut phenotype","anatomical structure formation involved in morphogenesis phenotype","digestive tract","incomplete closing of the secondary palate","mesenchyme","pre-chordal neural plate phenotype","cerebellar vermis morphology phenotype","Aplasia/Hypoplasia affecting the eye","increased number of organ part","multicellular anatomical structure phenotype","Abnormality of the philtrum","incomplete closing of the organ","orbit of skull morphology phenotype","decreased size of the anatomical structure","skeleton of manus","number of anatomical enitites of type organ phenotype","Abnormal upper lip morphology","craniocervical region","tube morphogenesis","subdivision of tube","decreased size of the anatomical entity","ventricular system of central nervous system","trunk mesenchyme","incomplete closing of the multicellular anatomical structure","subdivision of digestive tract","developing anatomical structure phenotype","increased number of organism subdivision in the manus","Hypoplastic male external genitalia","increased number of anatomical entity in the cerebrospinal fluid","camera-type eye phenotype","head mesenchyme","number of anatomical enitites of type organ component layer phenotype","morphogenesis of embryonic epithelium","medial nasal prominence","segment of autopod","upper lip phenotype","Abnormal posterior cranial fossa morphology","Abnormal eyebrow morphology","future nervous system","increased length of the non-material anatomical boundary","ventricle of nervous system phenotype","sensory perception","immature eye phenotype","disconnected anatomical group","increased size of the anatomical entity","neural tube phenotype","number of anatomical enitites of type organism subdivision phenotype","tissue development","absent sense organ","primordium","Postaxial polydactyly","increased width of posterior cranial fossa","face morphology phenotype","ecto-epithelium phenotype","autopodial extension","head paraxial mesoderm morphology phenotype","increased number of brain ventricle","number of anatomical enitites of type organ part phenotype","split anatomical entity","autopod region phenotype","male reproductive system","tragus morphology phenotype","anatomical system physiology phenotype","shape of face phenotype","Duplication of bones involving the upper extremities","absent material anatomical entity in the tissue","collection of hairs","reproductive structure","main body axis","anatomical entity length phenotype","frontonasal prominence morphology phenotype","tissue phenotype","male reproductive organ","anatomical structure morphogenesis","naris","increased number of anatomical structure in the manus","epithelial tube morphogenesis","material anatomical entity","multicellular organism phenotype","skin of body morphology phenotype","zone of organ phenotype","Abnormal midface morphology","simple eye phenotype","cheek phenotype","organ part phenotype","anatomical system","gastrula morphology phenotype","subdivision of head","All","organ phenotype","tube phenotype","integumental system phenotype","primary neural tube formation","cerebellar vermis hypoplasia","philtrum phenotype","cranial bone phenotype","Abnormality of the nervous system","multicellular anatomical structure","process","basicranium","cerebellar cortex morphology phenotype","neural plate","decreased qualitatively sensory perception","embryo development","axial skeleton plus cranial skeleton morphology phenotype","sensory system","germ layer morphology phenotype","increased length of the anatomical entity","subdivision of organism along main body axis","Morphological central nervous system abnormality","male organism","number of anatomical enitites of type morphological feature phenotype","increased size of the organism subdivision","face","delayed developmental process","increased number of material anatomical entity","subdivision of organism along main body axis phenotype","biological_process","external integument structure","multi-limb segment region phenotype","axon tract phenotype","middle ear physiology phenotype","asexual reproduction phenotype","external male genitalia phenotype","sensory system phenotype","forelimb bone","decreased size of the material anatomical entity","decreased width of the secondary palate","craniocervical region phenotype","unilaminar epithelium phenotype","Interhemispheric cyst","vault of skull","reproductive system phenotype","face phenotype","strand of hair","regional part of nervous system phenotype","body proper","increased number of digit 1 or 5 in the manus","anatomical cavity phenotype","number of anatomical enitites of type cutaneous appendage phenotype","anatomical entity","embryonic structure","tetrapod frontal bone morphology phenotype","absent anatomical entity","number of anatomical enitites of type sense organ phenotype","external genitalia morphology; external genitalia phenotype","increased number of autopodial extension in the limb","optic vesicle","Abnormal reproductive system morphology","entity","immaterial anatomical entity phenotype","orbit of skull","epithelium phenotype","Abnormality of the musculoskeletal system","Abnormality of the genital system","Visual impairment","decreased size of the calcareous tooth","multi-tissue structure phenotype","shape of anatomical entity phenotype","incomplete closing of the multi-tissue structure","anatomical structure","ocular adnexa phenotype","pharyngeal arch morphology phenotype","Abnormal hair quantity","malformed anatomical entity","Cephalocele","Abnormality of the genitourinary system","subdivision of skeleton","anatomical entity phenotype","presumptive structure","visual system phenotype","organ system subdivision","white matter of forebrain","foregut morphology phenotype","multi organ part structure phenotype","presumptive ectoderm phenotype","Blindness","Aplasia/Hypoplasia of the eyebrow","reproductive system morphology phenotype","reproductive organ phenotype","Eukaryota","brain ventricle/choroid plexus phenotype","absent multicellular anatomical structure in the multicellular organism","anatomical system phenotype","structure with developmental contribution from neural crest","absent material anatomical entity in the head","anatomical entity morphology in the pectoral complex phenotype","Craniofacial cleft","sensory perception phenotype","skeleton phenotype","ear physiology phenotype","genitourinary system","dermal bone phenotype","Widely spaced teeth","camera-type eye morphology phenotype","decreased size of the multi-tissue structure","future central nervous system phenotype","cranial skeletal system phenotype","digitopodium region","male organism phenotype","External genital hypoplasia","absent biological_process","anatomical entity hypoplasia","pharyngeal arch system","Abnormal calvaria morphology","Abnormality of the face","number of anatomical entities of type anatomical entity in blood phenotype","increased size of the lateral structure","cerebral subcortex","epithelial tube","endochondral bone phenotype","Abnormality of the mouth","autopod region","Sparse eyelashes","developmental process phenotype","digit","reproductive structure phenotype","Abnormal neural tube morphology","increased width of forehead","Cleft palate","decreased size of the roof of mouth","limb phenotype","external male genitalia hypoplasia","split face","Neural tube defect","increased width of philtrum","integumentary projection","Abnormality of globe size","number of anatomical enitites of type strand of hair phenotype","material entity","metencephalon morphology phenotype","Prominent nasal bridge","reproductive system","digit morphology phenotype","neural fold","eye morphology","external soft tissue zone","absent anatomical entity in the tissue","reproductive organ","upper eyelid","absent material anatomical entity","tissue","Hydrocephalus","multi-tissue structure","postcranial axial skeleton","biological_process phenotype","oral cavity","multicellular organism","gray matter phenotype","head morphology phenotype","Abnormal uvea morphology","ectoderm-derived structure","Macrotia","entire sense organ system","absent multicellular anatomical structure in the face","manual digitopodium region","decreased visual acuity; reduced visual acuity","neurocranium phenotype","development of anatomical entity phenotype","sense organ phenotype","craniofacial suture phenotype","eye","head bone phenotype","unilaminar epithelium","epithelial vesicle phenotype","tube formation","taxon specific phenotype","digit 1 or 5 phenotype","optic cup","number of anatomical enitites of type anatomical structure phenotype","orifice phenotype","system process","genitourinary system phenotype","preorbital bone region","neural tube closure","embryo morphology phenotype","germ layer / neural crest","simple eye","premature anatomical entity closure","absent anatomical entity in the head","decreased multicellular organismal process","root","epithelial tube formation","phenotypic effect","manual digit 5 plus metapodial segment","pilosebaceous unit morphology phenotype","lateral structure","cerebellum morphology phenotype","anatomical structure phenotype","intercerebral commissure","blood phenotype","absent multicellular anatomical structure in the tissue","haemolymphatic fluid phenotype","absent eyeball of camera-type eye","paired limb/fin segment","optic vesicle phenotype","rhombic lip","number of anatomical enitites of type anatomical projection phenotype","primordium phenotype","manual digit","skull morphology phenotype","posterior segment of eyeball","embryonic structure phenotype","cranial bone","germ layer phenotype","Eumetazoa","lip","number of anatomical enitites of type material anatomical entity phenotype","digit 1 or 5","skeleton","mouth phenotype","increased width of bone fossa","presumptive structure phenotype","developmental and structural abnormality","skeletal element phenotype","lateral plate mesoderm morphology phenotype","Abnormality iris morphology","middle ear","absent organ in the multicellular organism","cerebellar vermis","Abnormality of the eye","gastrula","Abnormal number of teeth","multicellular organismal process phenotype","absent multicellular anatomical structure in the head","multicellular organismal process","hindbrain","naris phenotype","skin epidermis morphology phenotype","fourth ventricle","ecto-epithelium","Brachycephaly","skin of body","embryonic tissue phenotype","absent sensory perception","embryonic head","sensory perception of light stimulus phenotype","subdivision of skeleton phenotype","neuroectoderm","neural fold phenotype","material anatomical entity phenotype","ectoderm phenotype","future central nervous system","embryo","mesoderm morphology phenotype","craniocervical region morphology phenotype","brain ventricle phenotype","musculature","subdivision of tube phenotype","bone element hypoplasia in face","pre-chordal neural plate","morphogenesis of an epithelium","organism subdivision","Abnormality of the male genitalia","phenotype","number of anatomical enitites of type multicellular anatomical structure phenotype","germ layer / neural crest phenotype","nonsynovial joint","segment of manus","pilosebaceous unit","eyelash","visual system","forehead morphology phenotype","Abnormality of globe location","prominent forehead","irregular bone","Abnormality of the head","Reduced visual acuity","mouth morphology phenotype","limb endochondral element phenotype","olfactory organ","size of brain ventricle phenotype","digestive system","axon tract morphology phenotype","independent continuant","immature eye","Abnormal hair morphology","neurogenic placode","midface morphology phenotype","midface phenotype","Abnormal oral morphology","increased width of surface groove","tooth-like structure phenotype","cheek morphology phenotype","cerebellum phenotype","protuberance phenotype","sense organ","Broad philtrum","pharyngeal arch","vault of skull phenotype","Phenotypic abnormality","developing anatomical structure","jaw region","pharyngeal arch 1","blood island phenotype","embryonic nasal process","musculoskeletal system phenotype","embryonic craniocervical region","irregular bone phenotype","mouth","Proboscis","nonsynovial joint phenotype","olfactory organ phenotype","integumentary system layer","decreased width of the material anatomical entity","oral cavity phenotype","segmental subdivision of nervous system","eyeball of camera-type eye","increased width of subdivision of head","sense organ physiology phenotype","surface structure","multi-limb segment region","developmental process","cranial placode phenotype","cellular organisms","Anophthalmia","multi organ part structure","paired limb/fin bud","limb bud","embryonic autopod plate","increased size of the anatomical line","forelimb","lateral structure phenotype","forelimb bud","absent organ in the head","long bone","delayed biological_process","axon tract","acropodial skeleton","upper jaw region","individual digit of digitopodial skeleton","pectoral appendage skeleton","multi organ part structure physiology phenotype","autopodial skeleton","appendicular skeleton morphology phenotype","bone of appendage girdle complex phenotype","increased size of the immaterial anatomical entity","neurectoderm phenotype","ear","chondrocranium","Abnormality of the ear","increased number of digit in the limb","limb bone morphology phenotype","phalanx of manus","number of anatomical enitites of type skeletal element phenotype","mesoderm-derived structure phenotype","socially cooperative development","organ system subdivision phenotype","skeleton of limb","intramembranous bone phenotype","Dandy-Walker malformation","dense mesenchyme tissue","head paraxial mesoderm","manus bone","manual digit bone","digitopodium bone","malformed anatomical space","eye physiology phenotype","increased size of the face","Abnormality of cranial sutures","bone element","subdivision of organism along appendicular axis","endochondral element","musculature of body","decreased qualitatively biological_process","increased number of organism subdivision in the appendage girdle complex","dense mesenchyme tissue phenotype","size of head phenotype","increased number of ventricle of nervous system","premature skeletal joint closure","mesenchyme phenotype","lateral plate mesoderm phenotype","Polydactyly","increased size of the material anatomical entity","digit plus metapodial segment","appendicular skeletal system","increased number of digit in the manus","Abnormal eye physiology","increased number of material anatomical entity in the limb","zone of skin morphology phenotype","increased number of anatomical structure in the limb","manus","embryonic autopod plate morphology phenotype","limb bud morphology phenotype","increased number of manual digit 5 in the manus","external nose","arm","Abnormality of skull size","non-neural ectoderm phenotype","Craniosynostosis","bone of appendage girdle complex","nasal bridge","increased size of the ventricle of nervous system","endochondral bone","primary subdivision of cranial skeletal system phenotype","paired limb/fin","limb segment","external male genitalia","bone of free limb or fin phenotype","forelimb phenotype","anatomical entity morphology in the brain phenotype","increased number of organism subdivision in the limb","manual digit phenotype","eyeball of camera-type eye phenotype","limb bud phenotype","medial nasal prominence morphology phenotype","Aplasia/Hypoplasia of the cerebellar vermis","Abnormal digit morphology","upper limb segment phenotype","increased number of anatomical structure","zone of bone organ","skeletal element","increased number of digit","increased number of manual digit","morphological feature phenotype","Abnormal appendicular skeleton morphology","Abnormality of limbs","mesoderm-derived structure","Global developmental delay","metencephalon phenotype","haemolymphatic fluid","paired limb/fin skeleton","skeleton of pectoral complex","orbital region","limb skeleton subdivision","cheek","manual digitopodium bone","decreased qualitatively system process","anatomical entity morphology in the appendage girdle complex phenotype","biological_process rate phenotype","absent material anatomical entity in the multicellular organism","increased number of anatomical entity in the limb","Abnormal hand morphology","limb morphology phenotype","Abnormality of limb bone","arm phenotype","dermis","postaxial polydactyly","paired limb/fin skeleton phenotype","increased number of organism subdivision","dentition phenotype","increased number of multicellular anatomical structure in the appendage girdle complex","autopodial extension phenotype","increased number of autopodial extension in the appendage girdle complex","paired limb/fin segment phenotype","shape of continuant phenotype","mesenchyme morphology phenotype","forelimb morphology phenotype","increased number of anatomical entity in the manus","Abnormal finger phalanx morphology","increased number of anatomical structure in the appendage girdle complex","limb","Abnormality of the middle ear","Duplication of hand bones","Abnormal 5th finger morphology","pectoral appendage bud phenotype","manual digit plus metapodial segment","transudate","head","decreased size of the tooth-like structure","dentition","calcareous tooth","Abnormal dental morphology","periorbital region phenotype","decreased size of the structure with developmental contribution from neural crest","Abnormal skull morphology","increased number of brain ventricle/choroid plexus","decreased size of the multicellular anatomical structure","tooth-like structure","calcareous tooth morphology phenotype","decreased size of the organ","epicanthal fold","autopod region morphology phenotype","decreased size of the skeletal element","brain gray matter phenotype","basicranium morphology phenotype","anatomical cluster","regional part of nervous system","increased number of organ part in the cerebrospinal fluid","anterior uvea morphology phenotype","organ component layer","increased size of the organ component layer","Hypoplasia of penis","gray matter of hindbrain","hindbrain phenotype","regional part of cerebellar cortex phenotype","location of external ear phenotype","external ear morphology phenotype","cerebellum hypoplasia","dilated fourth ventricle","pathological entity","central nervous system cell part cluster phenotype","increased size of the fourth ventricle","Ventriculomegaly","pathological phenotype observation","entire embryonic mesenchyme","increased size of the head","paraxial mesoderm","decreased qualitatively nervous system process","presumptive paraxial mesoderm phenotype","increased number of material anatomical entity in the manus","brain ventricle morphology phenotype","fourth ventricle morphology phenotype","Coloboma","organism subdivision phenotype","fibrous joint","basicranium phenotype","anatomical wall phenotype","forelimb bud morphology phenotype","rhombic lip phenotype","central nervous system cell part cluster","epithelium development","gray matter","brain gray matter","neurocranium","eye primordium phenotype","cerebellum","segmental subdivision of hindbrain","Aplasia/Hypoplasia involving the central nervous system","cranium morphology phenotype","paraxial mesoderm morphology phenotype","Abnormal cerebellum morphology","Intracranial cystic lesion","increased size of the organ part","orbit of skull phenotype","multi cell part structure","philtrum morphology phenotype","cranial fossa","posterior neural tube phenotype","posterior cranial fossa morphology phenotype","chordal neural plate phenotype","incomplete closing of the ectoderm-derived structure","posterior neural tube","vibrational conductance of sound to the inner ear","chordal neural plate","Abnormal nostril morphology","Abnormal cerebral ventricle morphology","cartilaginous neurocranium phenotype","cardiovascular system phenotype","Abnormal fourth ventricle morphology","increased size of the anatomical cavity","brain morphology phenotype","increased size of the brain ventricle","nervous system","cranial fossa morphology phenotype","decreased qualitatively reproductive process","future metencephalon","presumptive paraxial mesoderm","orifice","Abnormal ear physiology","digestive tract epithelium phenotype","malformed bone fossa","Abnormality of the supraorbital ridges","Abnormality of the orbital region","external genitalia phenotype","paraxial mesoderm phenotype","vestibulo-auditory system","malformed posterior cranial fossa","increased size of the brain ventricle/choroid plexus","segmental subdivision of hindbrain phenotype","Cerebellar vermis hypoplasia","increased width of anatomical space","location of eyeball of camera-type eye phenotype","jugal bone","brain ventricle/choroid plexus","iris phenotype","cardiovascular system","Abnormal brain morphology","external naris","neurocranium bone","Central nervous system cyst","malformed anatomical cavity","anatomical line phenotype","nervous system development","Abnormal metencephalon morphology","Abnormal skull base morphology","cranial suture phenotype","regional part of cerebellar cortex","primary subdivision of cranial skeletal system","appendicular skeleton phenotype","primary subdivision of skull","increased size of the multicellular anatomical structure","multi cell part structure phenotype","decreased width of the multicellular anatomical structure","nervous system process","increased width of cranial fossa","Duplication of phalanx of hand","sensory perception of sound phenotype","number of anatomical enitites of type incisor tooth phenotype","Abnormality of the ocular adnexa","dilated anatomical entity","cyst","Dilated fourth ventricle","rhombic lip morphology phenotype","increased number of material anatomical entity in the appendage girdle complex","cerebellar vermis phenotype","zygomatic arch","brain ventricle/choroid plexus morphology phenotype","sensory perception of mechanical stimulus phenotype","circulatory system","nervous system phenotype","system process phenotype","hindbrain morphology phenotype","articulation","decreased width of the anatomical entity","eye primordium","Abnormal fundus morphology","organ component layer phenotype","digestive system morphology phenotype","malformed immaterial anatomical entity","pathological anatomical entity","axial skeleton plus cranial skeleton","head mesenchyme phenotype","increased size of the anatomical structure","external ectoderm morphology phenotype","metencephalon","incisor tooth","regional part of brain phenotype","aplasia or hypoplasia of cerebellum","eyelid phenotype","facial bone phenotype","zygomatic arch phenotype","organ","cerebellar cortex","primary subdivision of skull phenotype","neural crest morphology phenotype","brain phenotype","anatomical wall","incomplete closing of the material anatomical entity","subdivision of skeletal system phenotype","incomplete closing of the anatomical entity","axial skeleton plus cranial skeleton phenotype","incomplete closing of the sense organ","aplasia or hypoplasia of cranial nerve II","uvea","decreased qualitatively sensory perception of sound","anterior uvea","Aplasia/Hypoplasia affecting the fundus","orbital margin","oral cleft; orofacial cleft","Abnormal anterior eye segment morphology","tube","decreased vibrational conductance of sound to the inner ear","Abnormal eyelash morphology","opening of the anatomical entity","facial bone hypoplasia","prominent nasal bridge","ectoderm-derived structure physiology phenotype","uvea morphology phenotype","increased height of the roof of mouth","incomplete closing of the anatomical structure","drooping anatomical entity","anterior segment of eyeball morphology phenotype","anterior segment of eyeball","incomplete closing of the eyeball of camera-type eye","iris morphology phenotype","iris","Aplasia/Hypoplasia of the optic nerve","cranial nerve II hypoplasia","eyebrow","neuron projection bundle","anatomical projection","Optic nerve hypoplasia","Abnormal posterior eye segment morphology","cranial neuron projection bundle phenotype","presumptive ectoderm","cranial nerve II phenotype","embryonic facial prominence","head bone","zygomatic arch hypoplasia","number of anatomical enitites of type anatomical entity phenotype","absent anatomical structure","cranial nerve II morphology phenotype","Abnormal optic nerve morphology","forelimb skeleton","neuron projection bundle phenotype","anatomical entity morphology in the manus phenotype","posterior segment of eyeball morphology phenotype","ocular fundus","multicellular anatomical structure physiology phenotype","decreased qualitatively visual perception","increased number of digit in the appendage girdle complex","anatomical entity physiology phenotype","Abnormality of the outer ear","absent visual perception","sensory perception of sound","lateral structure physiology phenotype","neural plate morphology phenotype","sensory perception of light stimulus","absent system process","absent nervous system process","decreased qualitatively sensory perception of light stimulus","nervous system process phenotype","secondary palate","simple eye physiology phenotype","cortex of cerebral lobe","absent multicellular organismal process","organ physiology phenotype","philtrum","structure with developmental contribution from neural crest phenotype","visual perception","increased width of material anatomical entity","material anatomical entity physiology phenotype","anatomical structure physiology phenotype","Abnormal lip morphology","increased width of multicellular anatomical structure","structure with developmental contribution from neural crest physiology phenotype","Abnormality of vision","neural crest-derived structure","location of ear phenotype","jaw skeleton","Tooth malposition","vestibulo-auditory system phenotype","facial skeleton","cranial suture","fibrous joint phenotype","skeletal joint","skeleton of manual acropodium","articular system","articulation phenotype","vasculature of organ","manual digit morphology in the manus phenotype","skeletal joint phenotype","Functional abnormality of the middle ear","pectoral complex","decreased system process","decreased biological_process","absent anatomical entity in the face","Abnormal ear morphology","external genitalia","sensory perception of mechanical stimulus","cartilaginous neurocranium","decreased sensory perception of mechanical stimulus","ventricle of nervous system","decreased nervous system process","vascular system","middle ear phenotype","decreased qualitatively sensory perception of mechanical stimulus","Hearing impairment","ear morphology phenotype","size of forehead phenotype","increased width of anatomical structure","increased size of the subdivision of head","frontonasal prominence","Abnormal forehead morphology","integumentary system layer phenotype","pectoral appendage","increased size of the forehead","external ear phenotype","integumentary adnexa phenotype","forehead","increased width of organism subdivision","forehead phenotype","anatomical entity hypoplasia in face","ear phenotype","dermal skeleton phenotype","skeleton of digitopodium","pharyngeal arch 1 morphology phenotype","dermatocranium phenotype","cranial nerve II","neural fold morphology phenotype","absent organ in the tissue","Abnormal zygomatic bone morphology","facial bone","dermal skeletal element phenotype","Sparse or absent eyelashes","facial skeleton morphology phenotype","ectoderm morphology phenotype","neural crest","absent anatomical structure in the face","posterior cranial fossa phenotype","neural crest phenotype","neural groove phenotype","neural groove","dermal skeletal element","jugal bone morphology phenotype","membrane bone","bone of craniocervical region","decreased sensory perception of sound","Malar flattening","increased width of anatomical entity","dermal skeleton","Abnormal hindbrain morphology","bone of craniocervical region phenotype","regional part of brain","jugal bone phenotype","embryonic tissue morphology phenotype","absent anatomical entity in the multicellular organism","membrane bone phenotype","skeletal element of eye region","epithelial fold phenotype","Abnormal facial skeleton morphology","temporofacial region","occurrent","nose morphology phenotype","Abnormal nasal morphology","non-neural ectoderm","neurogenic placode phenotype","nervous system cell part layer phenotype","prominent anatomical entity","nasal bridge phenotype","snout morphology phenotype","olfactory placode morphology phenotype","developing mesenchymal structure phenotype","ectodermal placode phenotype","foregut","Abnormal nasal bridge morphology","nose","snout","Short nose","absent multicellular anatomical structure","Abnormality of the nose","head phenotype","olfactory placode phenotype","bone fossa","olfactory placode","shape of external ear phenotype","cranial placode","external ear","fundus morphology","increased size of the external ear","cerebrospinal fluid phenotype","organism substance","increased number of multicellular anatomical structure in the cerebrospinal fluid"],"has_descendant":["MONDO:0011575"],"has_descendant_label":["cerebrooculonasal syndrome"],"has_descendant_count":1,"score":null,"highlighting":{}},{"id":"MONDO:0011576","category":"biolink:Disease","name":"familial hyperaldosteronism type II","xref":["DOID:0061249","GARD:0002789","MEDGEN:340137","MESH:C565312","NCIT:C127162","OMIM:605635","Orphanet:404","SCTID:703233008","UMLS:C1854107"],"synonym":["FH-II","FH2","FHII","HALD2","familial adrenal adenoma","familial hyperaldosteronism type 2"],"full_name":null,"in_taxon":null,"in_taxon_label":null,"symbol":null,"file_source":"phenio_nodes","provided_by":"phenio_nodes","type":null,"description":"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.","iri":null,"has_attribute":null,"has_biological_sex":null,"exact_synonym":["FH-II","FH2","familial adrenal adenoma","familial hyperaldosteronism type 2"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["FHII","HALD2"],"deprecated":null,"same_as":null,"subsets":["gard_rare","nord_rare","ordo_disorder","orphanet_rare","otar","rare"],"synonyms":null,"has_gene":null,"namespace":"MONDO","has_phenotype":["HP:0002018","HP:0002170","HP:0000822","HP:0000360","HP:0008221","HP:0000421","HP:0011746","HP:0200114","HP:0011740","HP:0002315","HP:0000859","HP:0001324","HP:0002900","HP:0040084"],"has_phenotype_label":["Tinnitus","Increased circulating aldosterone concentration","Hypokalemia","Abnormal circulating renin concentration","Epistaxis","Headache","Muscle weakness","Adrenal hyperplasia","Nausea","Intracranial hemorrhage","Secretory adrenocortical adenoma","Glucocortocoid-insensitive primary hyperaldosteronism","Hypertension","Metabolic alkalosis"],"has_phenotype_count":14,"has_phenotype_closure":["HP:0001948","HP:0200114","HP:0004360","UPHENO:7000630","UPHENO:0051682","HP:0011736","HP:0002664","UPHENO:3000003","HP:0008256","HP:0100631","HP:0100568","UPHENO:0003088","UPHENO:0005141","HP:0012337","UPHENO:0003093","UBERON:0005173","HP:0011732","UPHENO:0003776","UPHENO:0001447","UPHENO:0003413","UPHENO:0001292","UPHENO:0001031","UPHENO:0001449","UPHENO:0001145","UPHENO:0086735","UPHENO:0004261","UPHENO:0087376","UBERON:0009569","UPHENO:0001439","UPHENO:0002773","UBERON:0004734","UPHENO:0087228","UPHENO:0001303","UBERON:0000916","UBERON:0003075","UBERON:0010313","UBERON:0005062","UPHENO:0002550","UBERON:0002417","UBERON:0005157","UBERON:0005061","UBERON:0005172","UPHENO:0001109","HP:0008221","HP:0003111","CHEBI:33259","CHEBI:24835","UPHENO:0066739","UPHENO:0049904","HP:0031071","CHEBI:25213","CHEBI:26217","HP:0010930","CHEBI:36915","PR:000050025","CHEBI:33296","CHEBI:26216","UPHENO:0086485","CHEBI:24867","CHEBI:22314","UBERON:0015212","CHEBI:36916","UPHENO:0079822","UPHENO:0051960","UPHENO:0034522","UPHENO:0034199","HP:0010929","CHEBI:33504","HP:0000834","UPHENO:0003050","CHEBI:29103","CHEBI:33238","UPHENO:0003047","UPHENO:0075195","UPHENO:0003022","CHEBI:24870","UPHENO:0002816","HP:0033127","HP:0001324","UPHENO:0002359","HP:0003011","UPHENO:0002320","HP:0011804","UBERON:0004111","PR:000018263","HP:0030972","UBERON:0000055","CHEBI:33318","UPHENO:7000207","HP:0011746","UBERON:0004537","HP:0000822","HP:0002018","HP:0002017","UPHENO:0001360","UPHENO:0002443","UBERON:0002268","UBERON:0001456","HP:0000152","UBERON:0001444","HP:0000421","UPHENO:7000310","UPHENO:0002910","UPHENO:0002448","UPHENO:0002744","UBERON:0002530","HP:0000234","UBERON:0000004","UBERON:0000075","UBERON:0001981","UBERON:0007798","UBERON:0002204","UPHENO:0002548","GO:0003013","HP:0012638","UPHENO:9002003","HP:0002011","HP:0012639","HP:0100659","UPHENO:0002269","UPHENO:0004262","CHEBI:3992","CHEBI:26764","GO:0003008","CHEBI:61313","UBERON:0000178","UPHENO:0003186","UPHENO:0002907","CHEBI:35344","UBERON:0002368","UPHENO:0046333","UPHENO:0002833","HP:0011458","UBERON:0006601","UPHENO:7000533","UPHENO:0076776","CHEBI:51689","UPHENO:0001003","UPHENO:0004525","CHEBI:33250","HP:0000859","UBERON:0002346","UPHENO:0005055","CHEBI:36587","UPHENO:0002731","CHEBI:33635","UBERON:0001032","CHEBI:33832","UPHENO:0080556","CHEBI:24651","MPATH:119","CHEBI:33304","UBERON:0016879","UBERON:0001062","UPHENO:0087661","CHEBI:35341","UBERON:0010074","UBERON:0001007","CHEBI:25354","UPHENO:0002554","UBERON:0000179","UBERON:0000923","HP:0011028","HP:0000847","UPHENO:0003094","UPHENO:0004885","HP:0000001","HP:0040084","CHEBI:36699","HP:0040085","UBERON:0006858","CHEBI:72695","CHEBI:33822","HP:0002900","UPHENO:0004505","UPHENO:0081547","CHEBI:24431","UBERON:0000383","UBERON:0004120","UBERON:0005177","UPHENO:0076293","UBERON:0003061","CHEBI:50860","UPHENO:0002568","UBERON:0001017","UPHENO:0004536","UPHENO:0052002","UPHENO:0086679","CHEBI:36962","CHEBI:33582","UPHENO:0002267","UBERON:0002100","HP:0025015","CHEBI:36885","CHEBI:25367","MPATH:1000","BFO:0000001","CHEBI:30879","UPHENO:0002553","CHEBI:35789","CHEBI:17087","UPHENO:0076729","UPHENO:0001002","BFO:0000040","UPHENO:0079534","UPHENO:0001392","CHEBI:35350","UPHENO:0089756","CHEBI:47909","UPHENO:0076812","UPHENO:0002536","GO:0007600","CHEBI:33521","CHEBI:51721","HP:0011740","UPHENO:0002926","UBERON:0000463","CHEBI:18059","CHEBI:78840","HP:0025031","UPHENO:0002433","UPHENO:0046284","CHEBI:139590","BFO:0000004","UBERON:0004121","UBERON:0000062","UBERON:0001016","UPHENO:0001001","UPHENO:0087423","HP:0001892","CHEBI:33674","UBERON:0000922","HP:0000118","UBERON:0005090","UBERON:0034923","UBERON:0003081","UPHENO:0002976","UBERON:0000949","UPHENO:0002567","UPHENO:0002564","UPHENO:0068199","UBERON:0001434","UPHENO:0046281","UPHENO:0002844","PR:000013883","UBERON:0000483","UBERON:0002369","HP:0011042","UBERON:0002050","UBERON:0015204","UPHENO:0002542","UPHENO:0051624","UPHENO:0004802","HP:0000366","UPHENO:0003116","UPHENO:0004503","UPHENO:0004892","UPHENO:7000320","UPHENO:0051763","UPHENO:0089770","UBERON:0002193","UPHENO:0046283","CHEBI:139588","UPHENO:0049587","UBERON:0003104","UPHENO:0051097","UPHENO:7000163","UBERON:0007524","UBERON:0000475","CHEBI:37247","HP:0012443","CHEBI:37577","HP:0000818","HP:0011029","CHEBI:131565","CHEBI:36357","CHEBI:50858","UPHENO:0002308","HP:0030680","CHEBI:51958","UBERON:0001009","UPHENO:0001134","UPHENO:0004519","UPHENO:0003432","UPHENO:0087665","UBERON:0000467","UPHENO:0002525","CHEBI:33559","GO:0008152","CHEBI:23367","CHEBI:36586","CHEBI:47788","UPHENO:0077817","UBERON:0005423","UPHENO:0051628","UBERON:0000955","CHEBI:33675","UBERON:0013701","UPHENO:0076286","UPHENO:0082539","UBERON:0000465","UPHENO:0068380","GO:0042592","CHEBI:36914","UPHENO:0082875","UPHENO:0068045","CHEBI:36841","UPHENO:0003163","HP:0032263","CHEBI:64600","UBERON:0002390","UBERON:0011216","UBERON:0013702","UPHENO:0004680","UPHENO:0068251","UPHENO:0001138","UPHENO:0002541","HP:0031704","MPATH:105","CHEBI:33285","UPHENO:0002579","HP:0000271","UBERON:0000924","UPHENO:0087384","HP:0001939","UBERON:0000001","BFO:0000002","UBERON:0006598","CHEBI:36887","CHEBI:36963","UPHENO:0003412","UBERON:0002342","CHEBI:33608","UPHENO:0001101","UPHENO:0003207","UPHENO:0003025","UPHENO:0051990","UPHENO:0002577","UPHENO:0002963","UPHENO:0002529","UPHENO:0068047","UPHENO:0002352","PR:000000001","UBERON:0010371","CHEBI:27584","UBERON:0006314","UPHENO:0002949","CHEBI:35346","UPHENO:0089764","UPHENO:0004900","UPHENO:0004418","UBERON:0010000","UBERON:0000479","CHEBI:33579","UPHENO:0076805","UPHENO:0068556","HP:0100641","UPHENO:0002678","UPHENO:0076692","UPHENO:0002211","UPHENO:0068064","UPHENO:0002928","UPHENO:0003159","UBERON:0005291","UPHENO:0002571","HP:0025032","MPATH:0","HP:0011025","UPHENO:0002592","UBERON:0001004","HP:0000707","UBERON:0000468","CHEBI:15734","UPHENO:0048763","MPATH:603","UPHENO:3000000","UPHENO:0002530","UPHENO:0002532","CHEBI:33595","UBERON:0018229","UPHENO:0002526","UPHENO:0002240","UBERON:0000061","UPHENO:0002764","HP:0000598","UBERON:0015203","UBERON:0002105","UBERON:0000926","UBERON:0000033","HP:0000360","HP:0011793","UPHENO:0002385","BFO:0000015","UPHENO:0002386","CHEBI:60242","BFO:0000003","UBERON:0011676","CHEBI:17478","GO:0008150","UBERON:0001690","HP:0000364","UPHENO:0034351","UBERON:0000153","UPHENO:0004494","GO:0032501","UPHENO:0002866","GO:0007605","UPHENO:7000158","HP:0001626","UPHENO:0004459","UBERON:0000020","CHEBI:25414","UBERON:0016880","UPHENO:0002903","UBERON:0000477","UBERON:0007811","UPHENO:0051190","GO:0050877","HP:0002315","GO:0008015","UPHENO:0001135","UBERON:0010314","UBERON:0004456","UBERON:0003128","UPHENO:0081581","UPHENO:0076791","HP:0002597","UBERON:0010316","UBERON:0004535","GO:0009987","UPHENO:0080555","UPHENO:0002576","UBERON:0001015","UPHENO:0004888","UPHENO:0048707","UPHENO:0049703","UPHENO:0051804","UPHENO:0004523","CHEBI:25806","UPHENO:0076702","UPHENO:0004615","UPHENO:0051645","GO:0050954","UBERON:0002049","UPHENO:0002406","HP:0002170","UPHENO:0004521","UPHENO:0001072","UPHENO:0087660","HP:0001871","UPHENO:0004507","UPHENO:0050106","UBERON:0001630","UPHENO:0081434","UBERON:0000307","UPHENO:0005030","UPHENO:7000335","CHEBI:23906","UPHENO:0088123","UPHENO:0002715","UPHENO:0081435"],"has_phenotype_closure_label":["alkalosis","Metabolic alkalosis","blood renin level phenotype","Abnormal circulating renin concentration","Primary hyperaldosteronism","Glucocortocoid-insensitive primary hyperaldosteronism","Neoplasm of the adrenal cortex","neoplasm phenotype","Neoplasm of the endocrine system","Adrenocortical adenoma","Secretory adrenocortical adenoma","abdomen","increased size of the adrenal/interrenal gland","Adrenal hyperplasia","epithelial fold","Alkalosis","increased size of the material anatomical entity","increased size of the trunk region element","neural crest morphology phenotype","increased size of the multicellular anatomical structure","increased size of the organ","adrenal/interrenal gland","increased size of the abdominal segment element","trunk region element","gland","Abnormal endocrine morphology","neural crest-derived structure phenotype","increased size of the anatomical entity","epithelium phenotype","abdominal segment element phenotype","gastrula","lateral structure","Neoplasm of the adrenal gland","adrenal/interrenal gland phenotype","endocrine gland","neural groove","neural groove phenotype","endocrine system morphology phenotype","gland phenotype","abdomen element","epithelium","neural plate","adrenal gland","neural crest-derived structure","lateral structure phenotype","gastrula morphology phenotype","increased size of the structure with developmental contribution from neural crest","subdivision of trunk phenotype","neural fold morphology phenotype","increased size of the gland","increased size of the mesoderm-derived structure","adrenal gland morphology phenotype","s-block element atom","metal atom","neural plate phenotype","inorganic molecular entity","atom","blood monovalent inorganic cation level phenotype","trunk phenotype","monoatomic ion","cation","metabolic process","cellular process","monovalent inorganic cation","homeostatic process phenotype","monoatomic monocation","potassium molecular entity","decreased level of potassium atom in blood","Abnormal circulating potassium concentration","blood potassium atom level phenotype","inorganic cation","monoatomic cation","alkali metal molecular entity","ecto-epithelium","abdomen element phenotype","alkali metal cation","potassium(1+)","Abnormal homeostasis","blood monoatomic ion level phenotype","monoatomic entity","amino acid chain","Abnormal circulating monovalent inorganic cation concentration","muscle organ","Neoplasm by anatomical site","muscle structure","muscle organ physiology phenotype","musculature of body phenotype","Abnormality of the musculoskeletal system","muscle structure physiology phenotype","muscle structure phenotype","muscle organ phenotype","vessel","main group element atom","Abnormal systemic blood pressure","blood vessel","Headache","Abnormality of digestive system physiology","digestive system physiology phenotype","digestive system","digestive system phenotype","Abnormality of the digestive system","Nausea and vomiting","chromaffin system","Abnormality of the nose","respiratory system","subdivision of head","epistaxis","nose phenotype","subdivision of head phenotype","olfactory organ","epithelial fold phenotype","Abnormality of metabolism/homeostasis","Abnormality of the head","respiratory system physiology phenotype","decreased anatomical entity strength","craniofacial/craniocervical phenotype","respiratory system phenotype","increased size of the adrenal gland","Abnormality of head or neck","decreased level of chemical entity","Abnormality of the face","face phenotype","anatomical entity morphology in the brain phenotype","Nausea","brain phenotype","vasculature phenotype","circulatory system process phenotype","Abnormality of acid-base homeostasis","nervous system","inorganic ion","anatomical cluster phenotype","blood circulation phenotype","Abnormality of blood and blood-forming tissues","increased level of mineralocorticoid in blood","bodily fluid phenotype","future central nervous system phenotype","endocrine gland morphology phenotype","3-oxo-Delta(4) steroid","Abnormal circulating aldosterone concentration","trunk region element phenotype","elemental potassium","mesoderm-derived structure phenotype","disconnected anatomical group","alpha,beta-unsaturated ketone","Abnormality of renin-angiotensin system","C21-steroid","anatomical structure phenotype","alpha-hydroxy ketone","renin-angiotensin system phenotype","neural fold","steroid hormone","ectoderm morphology phenotype","aldehyde","multicellular organismal process phenotype","anatomical system","multicellular organism phenotype","ion","organic molecular entity","adrenal gland phenotype","ecto-epithelium phenotype","phenotype","oxygen molecular entity","nausea","polycyclic compound","embryonic tissue","developing anatomical structure phenotype","increased bodily fluid role level","blood organic molecular entity level phenotype","potassium atom level phenotype","chemical entity level phenotype","biological_process","hydrogen molecular entity","Abnormal circulating electrolyte concentration","Increased blood pressure","increased level of ketone in blood","multicellular anatomical structure physiology phenotype","dense mesenchyme tissue","Hypokalemia","non-connected functional system","tissue","Abnormal ear physiology","material anatomical entity","system process phenotype","cardiovascular system physiology phenotype","Increased circulating aldosterone concentration","blood cation level phenotype","presumptive structure phenotype","blood island","blood","germ layer","multicellular organism morphology phenotype","multicellular organism chemical entity level phenotype","hydroxides","material entity","organooxygen compound","multicellular organismal process","chalcogen molecular entity","intracranial hemorrhage","blood island phenotype","endocrine gland phenotype","increased level of chemical entity","mesoderm-derived structure","hypertension","organochalcogen compound","11-hydroxy steroid","carbonyl compound","germ layer phenotype","embryo phenotype","Abnormal circulating inorganic cation concentration","Epistaxis","subdivision of skeletal system","Abdominal symptom","vascular system morphology phenotype","decreased role blood level","increased level of chemical entity in bodily fluid","circulatory system","sense organ","increased blood role level","neurectoderm phenotype","organic cyclic compound","role bodily fluid level phenotype","increased level of chemical entity in tissue","protein","anterior region of body","Internal hemorrhage","corticosteroid hormone","decreased level of chemical entity in blood","germ layer morphology phenotype","organic polycyclic compound","organic hydroxy compound","olfactory organ phenotype","subdivision of organism along main body axis phenotype","anatomical entity physiology phenotype","anatomical entity phenotype","presumptive structure","organic oxo compound","gland morphology phenotype","anatomical structure","neural crest phenotype","tissue phenotype","cyclic ketone","subdivision of organism along main body axis","decreased muscle organ strength","sensory perception of mechanical stimulus","role blood level phenotype","musculature phenotype","increased level of lipid in blood","heteroatomic molecular entity","blood chemical entity level phenotype","ketone","renin-angiotensin system","Abnormal cardiovascular system morphology","mesenchyme phenotype","s-block molecular entity","vestibulo-auditory system phenotype","mesoderm","tissue chemical entity level phenotype","ectoderm phenotype","material anatomical entity phenotype","future nervous system","entity","Abnormality of the musculature","anatomical conduit","hydroxy steroid","independent continuant","mesenchyme","brain","aldosterone level phenotype","heteroorganic entity","hematopoietic system phenotype","anatomical structure physiology phenotype","angiotensinogenase","Abnormal nervous system physiology","3-oxo steroid","anatomical system physiology phenotype","potassium atom","organic molecule","blastula","Abnormal cerebral vascular morphology","anatomical entity morphology phenotype","lipid level phenotype","subdivision of trunk","primary alcohol","germ layer / neural crest","increased level of aldosterone in blood","Neoplasm","11beta-hydroxy steroid","pathological phenotype observation","renin","musculature","oxo steroid","developing anatomical structure","phenotypic effect","haemolymphatic fluid phenotype","organ","organism substance phenotype","lateral plate mesoderm","continuant","18-oxo steroid","21-hydroxy steroid","brain morphology phenotype","cardiovascular system morphology phenotype","nose","increased level of chemical entity in blood","alcohol","craniocervical region","blood oxygen molecular entity level phenotype","lateral plate mesoderm phenotype","abdominal segment element","20-oxo steroid","multicellular anatomical structure phenotype","hormone blood level phenotype","size of anatomical entity phenotype","corticosteroid","anatomical entity","anatomical system phenotype","aldosterone","chemical entity","blood circulation","embryo","material anatomical entity physiology phenotype","blood mineralocorticoid level phenotype","enone","germ layer / neural crest phenotype","structure with developmental contribution from neural crest physiology phenotype","blood phenotype","All","mesoderm phenotype","gross anatomical part","carbon group molecular entity","hemolymphoid system","embryonic tissue phenotype","Phenotypic abnormality","hematopoietic system","decreased level of chemical entity in tissue","molecule","embryo morphology phenotype","polyatomic entity","Abnormality of blood circulation","main group molecular entity","endocrine system phenotype","mineralocorticoid","blood lipid level phenotype","Abnormality of the nervous system","glandular system","multicellular anatomical structure","bodily fluid","embryonic structure","trunk","alkali metal atom","Muscle weakness","Hypertension","haemolymphatic fluid","Hearing abnormality","musculature of body","organ system subdivision phenotype","head","blood vasculature","ectoderm-derived structure phenotype","olefinic compound","endocrine system","ear physiology phenotype","increased size of the anatomical structure","central nervous system morphology phenotype","structure with developmental contribution from neural crest","primary alpha-hydroxy ketone","entire sense organ system","main body axis","Abnormality of the ear","neuroectoderm","sensory perception","anatomical cluster","cyclic compound","Abnormality of the endocrine system","organism subdivision","head phenotype","circulatory system phenotype","occurrent","craniocervical region phenotype","homeostatic process","organism subdivision phenotype","neural fold phenotype","increased level of lipid","Tinnitus","process","body proper","nervous system process","steroid aldehyde","sense organ phenotype","Abnormal adrenal morphology","vestibulo-auditory system","system process","steroid","tinnitus","sensory system phenotype","embryonic structure phenotype","pathological entity","increased size of the endocrine gland","molecular entity","structure with developmental contribution from neural crest phenotype","neural crest","presumptive ectoderm phenotype","future central nervous system","skeletal system","neural plate morphology phenotype","C21-steroid hormone","ectoderm","Abnormality of the adrenal glands","embryonic tissue morphology phenotype","nervous system phenotype","organ system subdivision","vasculature morphology in the brain phenotype","Abnormal nervous system morphology","sense organ physiology phenotype","cardiovascular system","organ phenotype","central nervous system","biological_process phenotype","sensory system","ectoderm-derived structure","musculoskeletal system","homeostasis","p-block molecular entity","vascular system","increased size of the abdomen element","Abnormal bleeding","face","Morphological central nervous system abnormality","organism substance","hemorrhage and non-specified extravasation","increased size of the lateral structure","ear","organ physiology phenotype","nervous system physiology phenotype","Abnormal cardiovascular system physiology","metal cation","central nervous system phenotype","circulatory disorder","cardiovascular system phenotype","Abnormality of the cardiovascular system","Intracranial hemorrhage","Abnormal muscle physiology","blood aldosterone level phenotype","Abnormal brain morphology","abdominal segment of trunk","Abnormal vascular morphology","elemental molecular entity","lipid","sensory perception of sound","cranium","taxon specific phenotype","ear phenotype","internal hemorrhage","Abnormality of the vasculature","multicellular organism","nervous system morphology phenotype","pathological anatomical entity","vasculature","dense mesenchyme tissue phenotype","presumptive ectoderm","circulatory system process"],"has_descendant":["MONDO:0011576"],"has_descendant_label":["familial hyperaldosteronism type II"],"has_descendant_count":1,"score":null,"highlighting":{}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":36178}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[]}