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region phenotype","scoliosis","pectoral appendage skeleton","Pediatric onset","presomitic mesoderm morphology phenotype","postcranial axial skeleton","postcranial axial skeletal system","cell condensation","Abnormal curvature of the vertebral column","developing mesenchymal condensation","vertebral column morphology phenotype","migrating mesenchyme population phenotype","cell condensation phenotype","humpback; kyphosis","Kyphosis","Parasomnia","decreased number of anatomical entity","decreased number of anatomical entity in the central nervous system","number of anatomical enitites of type neuron phenotype","number of anatomical enitites of type material anatomical entity phenotype","developmental process phenotype","delayed biological_process","delayed sorocarp development","anatomical structure development phenotype","delayed developmental process","Autosomal recessive inheritance","Mendelian inheritance","Mode of inheritance","Autosomal dominant inheritance","lobe of cerebral hemisphere","Abnormal pyramidal sign","anatomical entity dysfunction in primary motor cortex","muscle hypertonia; spasticity","neuron physiology phenotype","articulation phenotype","electrically active cell","decreased functionality of the anatomical entity","forelimb","decreased number of material anatomical entity in the multicellular organism","cerebral cortex phenotype","decreased functionality of the anatomical structure","neuron dysfunction in independent continuant","electrically responsive cell","Axial hypotonia","neocortex","future metencephalon","primary motor cortex","pallium","cerebral cortex","nervous system cell part layer","cerebral hemisphere","cerebral hemisphere gray matter","increased qualitatively response to stimulus","response to external stimulus","response to stimulus","Hyperreflexia","reflexive behavior","subdivision of tube","thoracic segment organ phenotype","trunk region element phenotype","thoracic segment of trunk","consumption behavior phenotype","organ part physiology phenotype","swallowing","socially cooperative development phenotype","trunk region element","digestive system element","digestive system element phenotype","development of anatomical entity phenotype","Functional abnormality of the gastrointestinal tract","digestive system physiology phenotype","Abnormal esophagus physiology","mesopodium region","decreased number of anatomical structure","alimentary part of gastrointestinal system physiology phenotype","feeding behavior","decreased swallowing","decreased functionality of the neuron projection bundle","esophagus","Dysphagia","trunk region element physiology phenotype","thoracic cavity element physiology phenotype","subdivision of digestive tract physiology phenotype","subdivision of trunk phenotype","Scoliosis","viscus phenotype","subdivision of tube physiology phenotype","thoracic cavity element phenotype","digestive system element physiology phenotype","alimentary part of gastrointestinal system phenotype","Global developmental delay","organ subunit","decreased functionality of the material anatomical entity","chordal neural plate phenotype","metencephalon morphology phenotype","Cerebellar atrophy","articulation","hindbrain morphology phenotype","segmental subdivision of nervous system","Abnormal metencephalon morphology","segmental subdivision of hindbrain phenotype","chordal neural plate","sorocarp development","cerebellum","cerebellum phenotype","regional part of cerebellar cortex phenotype","hindbrain phenotype","Abnormal hindbrain morphology","Absent speech","Neurodevelopmental delay","speech pattern; vocalization","dystonia","Cerebral atrophy","decreased size of the regional part of brain","decreased size of the telencephalon","decreased size of the multi-tissue structure","decreased number of neuron","telencephalon atrophy","Abnormality of refraction","Myopia","Tremor","tremor; tremors","Developmental regression","paraxial mesoderm morphology phenotype","Abnormality of coordination","decreased motor coordination","motor coordination","vestibular behavior","cognitive behavior","arm phenotype","Abnormal reflex","perception behavior by means","sensation behavior","Abnormal diminished volition","Abnormal emotional state","Depression","Sleep disturbance","Mental deterioration","Cognitive impairment","Motor stereotypy","Echophenomenon","segmental subdivision of hindbrain","Gait disturbance","Aplasia/hypoplasia involving bones of the extremities","limb","pelvic complex","musculoskeletal system phenotype","limb endochondral element phenotype","mesoderm phenotype","forelimb morphology phenotype","mesenchyme morphology phenotype","posterior neural tube phenotype","pelvic appendage skeleton phenotype","articular system","decreased length of subdivision of skeleton","hindlimb joint phenotype","paired limb/fin segment phenotype","paired limb/fin skeleton phenotype","multi-tissue structure atrophy","simple eye physiology phenotype","gray matter of forebrain phenotype","eye physiology phenotype","main body axis","hindlimb skeleton phenotype","cerebellum morphology phenotype","lateral structure","skeletal muscle organ, vertebrate phenotype","unilaminar epithelium phenotype","neuron","eyeball of camera-type eye","surface structure","white matter phenotype","Abnormal cognitive process","lateral structure physiology phenotype","autopod region phenotype","entire sense organ system","musculoskeletal movement","structure with developmental contribution from neural crest","central nervous system morphology phenotype","Hypertonia","Cerebellar vermis atrophy","axial skeleton plus cranial skeleton morphology phenotype","sensory system","ectoderm-derived structure","decreased muscle organ tone","alimentary part of gastrointestinal system","subdivision of skeletal system","forelimb bud","skeletal joint morphology phenotype","agitation behavior","tube","Agitation","Personality changes","behavior phenotype","anatomical structure physiology phenotype","Clinical course","paired limb/fin segment","gray matter of forebrain","multicellular anatomical structure physiology phenotype","brain gray matter phenotype","decreased multicellular organismal process","material anatomical entity physiology phenotype","presumptive paraxial mesoderm phenotype","Delayed speech and language development","multi-limb segment region phenotype","cell development","biological_process","anterior neural tube","organ physiology phenotype","bone element phenotype","anatomical entity morphology in the skeleton of pelvic complex phenotype","biological process involved in intraspecies interaction between organisms phenotype","Abnormality of movement","Spasticity","nervous system cell part layer phenotype","behavior process phenotype","sclerotome phenotype","brain phenotype","brain atrophy","orbital region","multi cell part structure atrophy","eye primordium phenotype","anatomical structure development","pelvic appendage","embryonic tissue phenotype","subdivision of organism along main body axis phenotype","nervous system development","subdivision of skeleton phenotype","axial skeleton plus cranial skeleton","pelvic appendage bud phenotype","subdivision of digestive tract phenotype","nervous system","decreased anatomical entity tone","cellular developmental process","Gait ataxia","immature eye phenotype","Recurrent maladaptive behavior","Abnormal glial cell morphology","regional part of brain phenotype","germ layer / neural crest phenotype","motivation behavior","tube phenotype","nucleus of brain","involuntary movement behavior","epithelial tube","vision/eye phenotype","multicellular organism","nervous system morphology phenotype","decreased number of anatomical structure in the multicellular organism","gray matter of telencephalon","forebrain","limb segment","decreased number of neuron in the central nervous system","regional part of brain atrophy","Abnormality of limb bone","Abnormality of the nervous system","neuroectoderm","somite phenotype","viscus physiology phenotype","neural tube morphology phenotype","neural nucleus atrophy","anatomical entity morphology phenotype","decreased size of the caudate nucleus","decreased size of the regional part of nervous system","caudate nucleus morphology phenotype","cell phenotype","aggregate regional part of brain","rhombic lip","Bruxism","number of anatomical enitites of type anatomical structure phenotype","system process","central nervous system cell part cluster atrophy","pes phenotype","caudate nucleus","subdivision of digestive tract","developing anatomical structure phenotype","cell physiology phenotype","ecto-epithelium phenotype","phenotype","decreased biological_process","lateral structure phenotype","decreased size of the anatomical entity","Unsteady gait","body part movement","emotional behavior phenotype","autopodial skeleton","digestive tract","sleep","mesenchyme","independent continuant","cognition","Morphological central nervous system abnormality","All","subdivision of head","nuclear complex of neuraxis phenotype","brain gray matter","Abnormal skeletal morphology","Abnormal caudate nucleus morphology","Ataxia","caudate-putamen","sensory system phenotype","biological process involved in intraspecies interaction between organisms","cellular process phenotype","decreased size of the telencephalic nucleus","collection of basal ganglia morphology phenotype","central nervous system cell part cluster","material anatomical entity atrophy","striatum morphology phenotype","limb phenotype","anatomical system physiology phenotype","telencephalon morphology phenotype","esophagus physiology phenotype","embryonic structure","anatomical entity","Caudate atrophy","number of cell phenotype","increased response to external stimulus","behavior","anatomical structure","Aplasia/hypoplasia involving bones of the lower limbs","Abnormality of mental function","cellular organisms","Atypical behavior","developmental process","tissue phenotype","Short foot","neurectoderm phenotype","Ankle clonus","somatic sensation related behavior","appendage","Atrophy/Degeneration affecting the central nervous system","basal nuclear complex","gliogenesis","nervous system phenotype","muscle contraction","future central nervous system","multi organ part structure phenotype","presumptive ectoderm phenotype","cortex of cerebral lobe","regional part of nervous system","voluntary musculoskeletal movement","anterior neural tube phenotype","Abnormality of eye movement","Abnormal cerebellum morphology","increased growth","rhombic lip phenotype","posterior region of body","camera-type eye","embryonic tissue","neural plate morphology phenotype","Abnormal communication","ectoderm","collection of basal ganglia","upper digestive tract","Aplasia/Hypoplasia involving the central nervous system","Phenotypic abnormality","limb skeleton subdivision","telencephalic nucleus phenotype","organ subunit phenotype","anatomical cluster phenotype","ectoderm-derived structure phenotype","gray matter","anatomical entity length phenotype","central nervous system cell part cluster phenotype","subdivision of organism along main body axis","germ layer morphology phenotype","neural plate","paired limb/fin bud","limb endochondral element","corticospinal tract phenotype","central nervous system","basal ganglion","multicellular anatomical structure phenotype","digestive system","basal forebrain","surface structure phenotype","paired limb/fin bud phenotype","telencephalon","posterior neural tube","Abnormal volitional state","embryo phenotype","striatum","material anatomical entity","autopod region","nervous system physiology phenotype","forebrain phenotype","foregut","decreased size of the neural nucleus","Severe intellectual disability","hindlimb skeleton","anatomical system phenotype","decreased size of the central nervous system cell part cluster","embryonic structure phenotype","Abnormal cerebral morphology","cerebral subcortex","organ atrophy","ventral part of telencephalon","craniocervical region","pre-chordal neural plate","subdivision of tube phenotype","musculature","skeleton of manus","Neuronal loss in central nervous system","decreased size of the anatomical structure","camera-type eye physiology phenotype","myopia","cell growth","Abnormality of digestive system physiology","taxon specific phenotype","telencephalic nucleus atrophy","Abnormality of the eye","hindlimb morphology phenotype","skeleton of pelvic complex","ectoderm-derived structure atrophy","size of brain phenotype","pre-chordal neural plate phenotype","Abnormal eye physiology","foregut phenotype","Opisthokonta","embryo morphology phenotype","Abnormal nervous system physiology","nervous system process","multi cell part structure phenotype","aplasia or hypoplasia of skeleton","Abnormal forebrain morphology","Clinical modifier","face phenotype","regional part of nervous system phenotype","decreased number of material anatomical entity","visual system phenotype","decreased rate of kinesthetic behavior","developing anatomical structure","phenotypic effect","Infantile onset","Impairment in personality functioning","skeletal musculature phenotype","emotional behavior","Abnormality of the gastrointestinal tract","Abnormal brain morphology","Abnormal muscle physiology","Abnormal cerebral subcortex morphology","decreased size of the cerebellum","spontaneous movement behavior","decreased size of the brain","face","caudate-putamen morphology phenotype","anatomical structure atrophy","hindbrain","multicellular organismal process","camera-type eye phenotype","corpus striatum","trunk mesenchyme","embryonic tissue morphology phenotype","metencephalon","caudate nucleus atrophy","neural tube phenotype","kinesthetic behavior","musculature of body","embryo","developmental cell growth phenotype","skeletal element phenotype","presumptive structure phenotype","skeleton","increased reflex","epithelium phenotype","presumptive paraxial mesoderm","neural nucleus","future central nervous system phenotype","anatomical structure phenotype","Abnormal affect","developing mesenchymal condensation phenotype","anatomical collection","decreased size of the ectoderm-derived structure","entity","frontal lobe","central nervous system gray matter layer phenotype","growth","multi cell part structure","organism subdivision","Brain atrophy","anatomical conduit","skeletal joint phenotype","decreased behavior","Abnormality of the musculature","organ","Abnormal corpus striatum morphology","thoracic segment organ","multi-tissue structure","manus","regional part of cerebellar cortex","decreased motivation behavior","ectoderm morphology phenotype","size of anatomical entity phenotype","organ part","glial cell","eye","decreased length of material anatomical entity","organ system subdivision","aplasia or hypoplasia of anatomical entity","increased response to stimulus","biological_process phenotype","gray matter phenotype","consumption behavior","thoracic cavity element","anatomical entity phenotype","presumptive structure","simple eye","germ layer / neural crest","Abnormal foot morphology","Seizure","anatomical conduit phenotype","Abnormality of limbs","neural nucleus phenotype","cerebellar cortex morphology phenotype","multicellular anatomical structure","process","skeleton phenotype","hindlimb bud phenotype","forebrain morphology phenotype","multi-tissue structure phenotype","sorocarp development phenotype","subdivision of trunk","ectoderm phenotype","Dystonia","Restricted or repetitive behaviors or interests","material anatomical entity phenotype","organ part phenotype","continuant","germ layer","digestive system phenotype","multicellular organism morphology phenotype","sclerotome morphology phenotype","anterior region of body","Abnormal central motor function","subdivision of head phenotype","limb bud","Abnormal nervous system morphology","basal ganglion phenotype","multicellular organismal movement phenotype","epithelial tube phenotype","musculoskeletal system","reflex","Metazoa","ectoderm-derived structure physiology phenotype","anatomical entity atrophy","skeletal system phenotype","blastula","Abnormal speech pattern","endochondral bone phenotype","increased biological_process","multicellular organismal process phenotype","gastrula","developing mesenchymal structure","Abnormality of the vertebral column","decreased size of the organ","autopod region morphology phenotype","organ system subdivision phenotype","lateral plate mesoderm morphology phenotype","germ layer phenotype","bone of pelvic complex morphology phenotype","Eumetazoa","decreased size of the multi cell part structure","future nervous system","neural tube","hindlimb bud","anatomical entity morphology in the brain phenotype","root","presumptive ectoderm","multicellular anatomical structure atrophy","dense mesenchyme tissue phenotype","decreased size of the multicellular anatomical structure in the pectoral complex","Onset","nucleus of brain phenotype","nuclear complex of neuraxis","decreased size of the nucleus of brain","pectoral appendage bud","central nervous system phenotype","behavior process","brain","developmental growth","skeletal joint","Abnormal basal ganglia morphology","voluntary musculoskeletal movement phenotype","pelvic appendage phenotype","tissue","material entity","Aplasia/hypoplasia involving bones of the hand","decreased size of the material anatomical entity","sense organ","head phenotype","eyeball of camera-type eye phenotype","Upper motor neuron dysfunction","pelvic appendage bud","neural cell","eye movement","primordium phenotype","Abnormality of the upper limb","orbital region phenotype","frontal cortex","craniocervical region phenotype","organism subdivision phenotype","optic vesicle","body proper","muscle system process","structure with developmental contribution from neural crest physiology phenotype","eye phenotype","regional part of nervous system atrophy","sense organ phenotype","appendicular skeleton phenotype","Abnormal joint morphology","unilaminar epithelium","structure with developmental contribution from neural crest phenotype","gastrula morphology phenotype","muscle tissue","Abdominal symptom","somite","decreased size of the multicellular anatomical structure","mesoderm morphology phenotype","multicellular organism phenotype","simple eye phenotype","response to external stimulus phenotype","viscus","nucleus of brain atrophy","primordium","animal gross anatomical part developmental process","eye primordium","vertebral column","axial skeletal system","increased developmental growth","regional part of brain","decreased length of skeleton of pes","pes morphology phenotype","agitation behavior phenotype","glial cell phenotype","developmental growth rate phenotype","optic vesicle phenotype","muscle organ","increased qualitatively biological_process","increased glial cell growth","Gliosis","cell differentiation","eukaryotic cell","neuromuscular process phenotype","number of anatomical enitites of type anatomical entity phenotype","skeleton of pes","increased cellular process","cellular process","Eukaryota","neurogenesis","embryonic autopod plate morphology phenotype","cerebellar vermis morphology phenotype","developmental cell growth","motor system","bone of free limb or fin","leg phenotype","system development","anatomical entity morphology in the appendage girdle complex phenotype","biological_process rate phenotype","migrating mesenchyme population","organ phenotype","subdivision of organism along appendicular axis phenotype","cell growth phenotype","response to stimulus phenotype","multicellular organism development","Stereotypic movements of face and head","disconnected anatomical group","Rigidity","decreased number of cell","Language impairment","neuron associated cell","cell growth rate phenotype","axial skeleton plus cranial skeleton phenotype","thoracic segment organ physiology phenotype","neural plate phenotype","decreased qualitatively multicellular organismal process","cerebellum atrophy","Abnormal lower limb bone morphology","decreased rate of spontaneous movement behavior","brain morphology phenotype","visual system","Chorea","decreased qualitatively behavior","Bradykinesia","forelimb bud phenotype","skeleton of limb phenotype","hindlimb","decreased rate of behavior process","non-connected functional system","Dialeptic seizure","Focal-onset seizure","focal seizures; focal-onset seizure","esophagus phenotype","eye movement phenotype","gross anatomical part","paired limb/fin","limb segment phenotype","endochondral element phenotype","Abnormality of extrapyramidal motor function","anatomical cluster","voluntary movement behavior phenotype","glial cell morphology phenotype","entire embryonic mesenchyme","paraxial mesoderm","epithelium","voluntary skeletal muscle contraction phenotype","head","trunk mesenchyme phenotype","muscle organ phenotype","growth phenotype","skeletal musculature","Dementia","glial cell growth","mesoderm-derived structure phenotype","biological_process in muscle organ phenotype","skeletal muscle organ, vertebrate","telencephalon phenotype","voluntary skeletal muscle contraction","segmental subdivision of nervous system phenotype","muscle structure phenotype","delayed anatomical structure development","Involuntary movements","electrically signaling cell","paraxial mesoderm phenotype","myotome","muscle contraction phenotype","dorsal striatum","mesenchyme phenotype","muscle system process phenotype","appendage phenotype","striated muscle contraction","central nervous system gray matter layer","telencephalic nucleus","embryonic autopod plate","anatomical system","voluntary movement behavior","developing mesenchymal structure phenotype","musculoskeletal movement phenotype","nervous system process phenotype","musculature of body phenotype","Abnormal muscle tone","skeletal system","decreased length of autopodial skeleton","musculature phenotype","immature eye","Focal impaired awareness seizure","multicellular organismal movement","vertebral column phenotype","presomitic mesoderm","Abnormality of the digestive system","muscle structure","Abnormal limb bone morphology","forelimb skeleton","neuron dysfunction in primary motor cortex","metencephalon phenotype","mesoderm-derived structure","increased cell growth","skeletal muscle contraction","muscle tissue phenotype","multilaminar epithelium phenotype","Abnormal movement during sleep","trunk phenotype","hindlimb joint","anatomical collection phenotype","presomitic mesoderm phenotype","muscle structure physiology phenotype","decreased size of the subdivision of skeleton","striated muscle contraction phenotype","bone of appendage girdle complex","system process phenotype","multilaminar epithelium","epithelial vesicle","skeleton of limb","dense mesenchyme tissue","epithelial vesicle phenotype","Atrophy/Degeneration affecting the cerebrum","myotome phenotype","trunk","hypertonia; hypertonicity","muscle tone","anatomical entity dysfunction in independent continuant","paired limb/fin phenotype","muscle organ physiology phenotype","Abnormal language feature","neuromuscular process","limb skeleton subdivision phenotype","bone of free limb or fin phenotype","mesoderm","Abnormal axial skeleton morphology","subdivision of skeleton","bone of pelvic complex","Neurodevelopmental abnormality","system","limb bone phenotype","limb bone","manus morphology phenotype","Abnormality of the musculoskeletal system","lower limb segment","skeletal system morphology phenotype","cell","lower limb segment phenotype","appendicular skeletal system","decreased length of organ system subdivision","occurrent","limb morphology phenotype","anatomical entity physiology phenotype","decreased length of anatomical structure","subdivision of skeletal system phenotype","appendage girdle complex","decreased size of the regional part of cerebellar cortex","sense organ physiology phenotype","pes","appendicular skeleton morphology phenotype","Abnormally increased volition","bone of appendage girdle complex phenotype","Aplasia/hypoplasia of the extremities","rhombic lip morphology phenotype","hindlimb bud morphology phenotype","limb bone morphology phenotype","pelvic appendage skeleton","ecto-epithelium","anatomical entity morphology in the pelvic complex phenotype","decreased number of anatomical entity in the multicellular organism","multi-limb segment region","subdivision of organism along appendicular axis","bone element","decreased qualitatively biological_process","endochondral element","decreased length of anatomical entity","hindlimb phenotype","skeletal muscle contraction phenotype","Aplasia/hypoplasia involving the skeleton","Atrophy/Degeneration involving the caudate nucleus","lateral plate mesoderm phenotype","basal ganglion morphology phenotype","Aplasia/Hypoplasia involving bones of the feet","Abnormality of the skeletal system","limb bud morphology phenotype","leg","developmental growth phenotype","endochondral bone","limb bud phenotype","pectoral appendage","Abnormality of the lower limb","decreased size of the organ system subdivision","socially cooperative development","skeletal element","bone of pelvic complex phenotype","Abnormal appendicular skeleton morphology","decreased size of the autopod region","reflex phenotype","lateral plate mesoderm","sclerotome","paired limb/fin skeleton","appendicular skeleton","decreased length of limb skeleton subdivision","decreased length of multicellular anatomical structure"],"has_descendant":null,"has_descendant_label":null,"has_descendant_count":0,"score":null,"highlighting":{}},{"id":"HGNC:3603","category":"biolink:Gene","name":"FBN1","xref":["ENSEMBL:ENSG00000166147","OMIM:134797"],"synonym":["MASS","OCTD","SGS","Marfan syndrome","asprosin","FBN","MFS1","WMS","fibrillin 1 (Marfan syndrome)"],"full_name":"fibrillin 1","in_taxon":"NCBITaxon:9606","in_taxon_label":"Homo sapiens","symbol":"FBN1","file_source":"hgnc_gene_nodes","provided_by":"hgnc_gene_nodes","type":"SO:0001217","description":null,"iri":null,"has_attribute":null,"has_biological_sex":null,"exact_synonym":null,"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"same_as":null,"subsets":null,"synonyms":null,"has_gene":null,"namespace":"HGNC","has_phenotype":["HP:0000293","HP:0000268","HP:0001629","HP:0004279","HP:0003577","HP:0000319","HP:0000486","HP:0002938","HP:0000391","HP:0002020","HP:0000577","HP:0002093","HP:0000219","HP:0004322","HP:0005830","HP:0025586","HP:0100807","HP:0009064","HP:0001659","HP:0001376","HP:0000275","HP:0003088","HP:0002650","HP:0030961","HP:0002092","HP:0000343","HP:0003508","HP:0000527","HP:0000218","HP:0009803","HP:0000006","HP:0030799","HP:0000179","HP:0007663","HP:0001718","HP:0000160","HP:0001371","HP:0008138","HP:0002002","HP:0000316","HP:0005180","HP:0001761","HP:0004872","HP:0004927","HP:0007800","HP:0000885","HP:0001083","HP:0000995","HP:0000678","HP:0000325","HP:0000822","HP:0000463","HP:0003179","HP:0002753","HP:0001072","HP:0004933","HP:0003300","HP:0003621","HP:0001252","HP:0006467","HP:0001187","HP:0000541","HP:0002816","HP:0003581","HP:0025599","HP:0430043","HP:0001883","HP:0001377","HP:0005136","HP:0001642","HP:0012759","HP:0030053","HP:0001783","HP:0000327","HP:0000248","HP:0011222","HP:0010743","HP:0001065","HP:0000586","HP:0000426","HP:0002750","HP:0008132","HP:0010579","HP:0011462","HP:0030051","HP:0001166","HP:0000494","HP:0009125","HP:0000414","HP:0002987","HP:0000189","HP:0000311","HP:0000774","HP:0002240","HP:0003691","HP:0100679","HP:0000501","HP:0004942","HP:0003199","HP:0012773","HP:0000483","HP:0001256","HP:0005280","HP:0001786","HP:0001840","HP:0001653","HP:0000768","HP:0001643","HP:0012385","HP:0100960","HP:0001097","HP:0001538","HP:0001363","HP:0000490","HP:0032934","HP:0000692","HP:0000278","HP:0001156","HP:0002097","HP:0100693","HP:0001622","HP:0001387","HP:0000978","HP:0008081","HP:0009381","HP:0007485","HP:0006482","HP:0000337","HP:0001511","HP:0002682","HP:0002751","HP:0007676","HP:0009768","HP:0002107","HP:0001537","HP:0004970","HP:0009830","HP:0012019","HP:0001169","HP:0000618","HP:0000276","HP:0003510","HP:0000594","HP:0001230","HP:0001562","HP:0000272","HP:0002705","HP:0001324","HP:0008872","HP:0001609","HP:0011463","HP:0001634","HP:0003596","HP:0003196","HP:0001763","HP:0001270","HP:0005328","HP:0005900","HP:0011003","HP:0001647","HP:0010049","HP:0011220","HP:0001519","HP:0000098","HP:0000545","HP:0003758","HP:0002808","HP:0000460","HP:0006380","HP:0001704","HP:0001773","HP:0000767","HP:0002647","HP:0010446","HP:0001765","HP:0001650","HP:0000520","HP:0000256","HP:0003302","HP:0002616","HP:0001635","HP:0003416","HP:0000565","HP:0003026","HP:0001382","HP:0100775","HP:0100578","HP:0000418","HP:0000238","HP:0000518","HP:0000347"],"has_phenotype_label":["Narrow palate","Scoliosis","Talipes","Downslanted palpebral fissures","Genu recurvatum","Short metatarsal","Melanocytic nevus","Motor delay","Medial rotation of the medial malleolus","Tip-toe gait","Aortic regurgitation","Mild intellectual disability","Depressed glabella","Neurodevelopmental abnormality","Shallow anterior chamber","Prominent nasal bridge","Congestive heart failure","Spinal canal stenosis","Limited shoulder movement","Dental crowding","Oligohydramnios","Broad skull","Abnormal dental morphology","Limited elbow extension","Microspherophakia","Intrauterine growth retardation","Pulmonary artery dilatation","Spondylolisthesis","Iridodonesis","Broad metatarsal","Ectopia lentis","Hoarse voice","Hypertension","Strabismus","Long fingers","Aortic valve stenosis","Mitral regurgitation","Gastroesophageal reflux","Hypoplasia of the maxilla","Patent ductus arteriosus","Aortic dissection","Elbow flexion contracture","Reduced upper to lower segment ratio","Broad metacarpals","Tricuspid valve prolapse","Joint stiffness","Deeply set eye","Hypertelorism","Kyphoscoliosis","Lumbar hyperlordosis","Short finger","Esotropia","Macrocephaly","Reduced visual acuity","Hepatomegaly","Pes valgus","Tooth malposition","Striae distensae","Pectus carinatum","Micrognathia","Congenital onset","Flexion contracture of toe","Lens luxation","Emphysema","Retrognathia","Knee flexion contracture","Inferior oblique muscle overaction","Narrow nasal ridge","Round face","Long eyelashes","Scapular winging","Pectus excavatum","Anteverted nares","Reduced subcutaneous adipose tissue","Decreased muscle mass","High palate","Incisional hernia","Equinus calcaneus","Myopia","Short metacarpal","Thickened skin","Deep philtrum","Thin bony cortex","Disproportionate tall stature","Middle age onset","Absence of subcutaneous fat","Lipodystrophy","Aortic aneurysm","Bruising susceptibility","Shallow orbits","Retinal detachment","Smooth philtrum","Ovoid vertebral bodies","Tricuspid regurgitation","Peripheral neuropathy","Broad forehead","Adult onset","Long face","Kyphosis","Stiff skin","Metatarsus adductus","Thick lower lip vermilion","Triangular face","Proportionate short stature","Bicuspid aortic valve","Arachnodactyly","Short foot","Umbilical hernia","Young adult onset","Mitral annular calcification","Ascending tubular aorta aneurysm","Protuberant abdomen","Lateral ventricular asymmetry","Tall stature","Limitation of joint mobility","Generalized lipodystrophy","Malar flattening","Progeroid facial appearance","Juvenile onset","Pes planus","Long philtrum","Hammertoe","Autosomal dominant inheritance","Short nose","Camptodactyly","Mitral stenosis","Broad ribs","Narrow nose","Keratoconjunctivitis sicca","Flexion contracture","Brachydactyly","Pulmonary arterial hypertension","Astigmatism","Joint hypermobility","Hypertropia","Short phalanx of finger","Dural ectasia","Craniosynostosis","Bulbous nose","Thickened helices","Severe short stature","Depressed nasal bridge","Tricuspid stenosis","Prominent forehead","Delayed skeletal maturation","Spontaneous cerebrospinal fluid leak","Narrow foot","Broad palm","Ascending aortic dissection","Short stature","Hyperextensibility of the finger joints","Protrusio acetabuli","Lack of skin elasticity","Blindness","Cataract","Lipoatrophy","Mitral valve prolapse","Pulmonic stenosis","Childhood onset","Full cheeks","Narrow chest","Thoracic lordosis","Hydrocephalus","Fifth metacarpal with ulnar notch","Hypoplasia of the iris","Narrow face","Narrow mouth","Thin upper lip vermilion","Feeding difficulties in infancy","Broad phalanges of the hand","High myopia","Pneumothorax","Dolichocephaly","Premature osteoarthritis","Respiratory insufficiency","Pes cavus","Short long bone","High, narrow palate","Increased axial length of the globe","Glaucoma","Brachycephaly","Hypotonia","Aortic root aneurysm","Muscle weakness","Ventricular septal defect","Cone-shaped epiphysis","Scaphocephaly","Exotropia","Short palm","Premature 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region element phenotype","Abnormal spinal cord morphology","Abnormal spinal meningeal morphology","Dural ectasia","spinal cord morphology phenotype","spinal cord phenotype","Iridodonesis","Lateral ventricular asymmetry","Spontaneous cerebrospinal fluid leak","meninx","voluntary musculoskeletal movement","neuromuscular process","multicellular organismal movement","Gait disturbance","Abnormality of movement","neuromuscular process phenotype","voluntary movement behavior","multicellular organismal movement phenotype","voluntary movement behavior phenotype","Scaphocephaly","decreased size of the transparent eye structure","Spherophakia","decreased size of the lens of camera-type eye","aplasia or hypoplasia of lens of camera-type eye","shape of lens of camera-type eye phenotype","Abnormal inferior oblique muscle physiology","Abnormal extraocular muscle physiology","Inferior oblique muscle overaction","Abnormal oblique muscle physiology","Childhood onset","bending of multicellular anatomical structure","bending of anatomical entity","bending of anatomical structure","bending of autopodial extension","Camptodactyly","Abnormal upper to lower segment ratio","Prominent forehead","prominent forehead","peripheral nervous system phenotype","Peripheral neuropathy","Abnormality of the peripheral nervous system","Abnormal peripheral nervous system physiology","organ system subdivision physiology phenotype","decreased size of the digitopodium bone","decreased length of bone of pectoral complex","Short metacarpal","decreased length of forelimb bone","decreased length of manus bone","decreased length of forelimb long bone","decreased length of manual digit metacarpus endochondral element","decreased length of digitopodium bone","decreased size of the forelimb endochondral element","decreased size of the autopod endochondral element","decreased length of limb long bone","Aplasia/Hypoplasia involving the metacarpal bones","decreased length of bone of appendage girdle complex","decreased size of the limb endochondral element","decreased size of the manus bone","decreased length of metapodium bone","decreased length of bone of free limb or fin","decreased length of limb endochondral element","decreased size of the autopod bone","decreased length of forelimb endochondral element","high myopia","High myopia","phalanx of manus hypoplasia","Short phalanx of finger","Aplasia/Hypoplasia of the phalanges of the hand","Aplasia/Hypoplasia of metatarsal bones","Reduced upper to lower segment ratio","Aplasia/Hypoplasia of fingers","Short finger","humerus endochondral element phenotype","conical anatomical entity","Cone-shaped epiphysis","conical epiphysis","zeugopod phenotype","tibiofibula","forelimb zeugopod bone","upper leg bone","upper arm bone phenotype","forelimb stylopod phenotype","forelimb zeugopod bone phenotype","epiphysis morphology","zone of long bone phenotype","hindlimb zeugopod bone phenotype","arm bone","leg bone","humerus","zone of long bone","forelimb zeugopod phenotype","hindlimb stylopod","radius-ulna endochondral element","shoulder bone","hindlimb zeugopod phenotype","humerus phenotype","epiphysis","zeugopod","stylopod","femur","shape of anatomical entity in long bone phenotype","constricted tricuspid valve","Tricuspid stenosis","Abnormal finger phalanx morphology","Thoracic lordosis","increased width of digit","Broad phalanges of the hand","increased width of manual digit","manual digit bone","phalanx of manus phenotype","manual digit bone phenotype","manual digit phalanx endochondral element phenotype","phalanx of manus","increased width of phalanx endochondral element","acropodial skeleton","phalanx","phalanx endochondral element","manual digit phalanx endochondral element","phalanx phenotype","skeleton of manual acropodium","Broad finger","phalanx morphology phenotype","multilaminar epithelium","multilaminar epithelium phenotype","developing mesenchymal structure phenotype","glabella region of bone","dermatome phenotype","tetrapod frontal bone","Feeding difficulties","Knee contracture","Abnormal knee morphology","decreased length of anatomical entity attached to knee","decreased length of tendon attached to knee","pes valgus","Pes valgus","Abnormal dental morphology","iris","iris phenotype","malformed anatomical structure","aplasia or hypoplasia of eyeball of camera-type eye","malformed anterior chamber of eyeball","malformed multicellular anatomical structure","decreased size of the limb bone","Abnormal uvea morphology","Hypoplasia of the iris","uvea morphology phenotype","malformed organ part","Aplasia/Hypoplasia of the iris","Aplasia/Hypoplasia affecting the eye","Aplasia/Hypoplasia affecting the uvea","Lower-limb joint contracture","decreased length of anatomical entity attached to pedal digit","Toe joint contracture","Foot joint contracture","Flexion contracture of digit","autopod joint","synovial limb joint","decreased length of anatomical entity attached to digit","number of anatomical enitites of type irregular connective tissue phenotype","absent connective tissue in the multicellular organism","number of anatomical enitites of type connective tissue phenotype","decreased number of tissue in the multicellular organism","decreased number of dense connective tissue","absent adipose tissue in the multicellular organism","decreased number of irregular connective tissue","absent irregular connective tissue in the multicellular organism","decreased number of tissue","absent connective tissue","absent dense irregular connective tissue","decreased number of material anatomical entity in the multicellular organism","decreased number of multicellular anatomical structure","decreased number of anatomical entity in the multicellular organism","decreased number of adipose tissue in the multicellular organism","absent tissue","number of anatomical enitites of type subcutaneous adipose tissue phenotype","absent dense irregular connective tissue in the multicellular organism","absent multicellular anatomical structure in the multicellular organism","Adipose tissue loss","number of anatomical enitites of type dense irregular connective tissue phenotype","absent adipose tissue","decreased number of dense irregular connective tissue in the multicellular organism","number of anatomical enitites of type tissue phenotype","absent anatomical structure","absent anatomical structure in the tissue","Absence of subcutaneous fat","decreased number of connective tissue in the multicellular organism","absent anatomical entity in the tissue","absent dense connective tissue","Abnormal shoulder physiology","Limited shoulder movement","Abnormally large globe","Abnormality of globe size","increased size of the eyeball of camera-type eye","mesopodium region phenotype","proximal mesopodial bone phenotype","mesopodial skeleton phenotype","calcaneus","proximal mesopodial endochondral element phenotype","short bone","Hindfoot deformity","proximal tarsal bone phenotype","Abnormality of the tarsal bones","Equinus calcaneus","proximal tarsal bone","calcaneum endochondral element","proximal tarsal endochondral element phenotype","tarsal region","tarsus endochondral element","number of anatomical enitites of type adipose tissue phenotype","proximal mesopodial bone","tarsal bone","mesopodium region","mesopodium bone","calcaneus phenotype","digit 5 plus metapodial segment","metacarpal bone of digit 5 phenotype","metacarpal bone of digit 5","Fifth metacarpal with ulnar notch","metapodium bone 5 phenotype","metapodium bone 5","manual digit 5 metacarpus endochondral element","individual digit of digitopodial skeleton","metacarpal bone of digit 5 morphology phenotype","manual digit 5 digitopodial skeleton","digit 5 digitopodial skeleton","Medial rotation of the medial malleolus","aplasia or hypoplasia of uvea","Depressed nasal bridge","shape of nasal bridge phenotype","Juvenile onset","nose hypoplasia","animal organ maturation","decreased qualitatively developmental maturation","anatomical structure maturation","system development","decreased qualitatively animal organ maturation","decreased length of endochondral element","bone development","Delayed skeletal maturation","developmental maturation phenotype","tarsus endochondral element phenotype","Kyphoscoliosis","scoliosis","kyphoscoliosis","humpback; kyphosis","Kyphosis","Middle age onset","Clinical modifier","upper arm bone","High, narrow palate","Severe short stature","decreased size of the upper limb segment","decreased length of limb segment","decreased length of palmar part of manus","decreased size of the anatomical entity in the pectoral complex","decreased length of segment of manus","Short palm","decreased length of subdivision of organism along appendicular axis","decreased length of upper limb segment","decreased length of segment of autopod","Lumbar hyperlordosis","femur endochondral element","subdivision of vertebral column","Hyperlordosis","lower back","lumbar region of vertebral column","hyperlordosis; lordosis","Hypertropia","Abnormality of the musculature of the upper limbs","appendage musculature phenotype","scapula morphology","Lens luxation","Scapular winging","musculature of pectoral complex","appendage musculature","pectoral girdle region phenotype","absent anatomical structure in the multicellular organism","absent material anatomical entity","musculature of pectoral complex phenotype","scapula endochondral element","pectoral appendage musculature","musculature of limb","tarsal bone phenotype","musculature of limb phenotype","dermatome","pectoral girdle region","Abnormality of the shoulder girdle musculature","musculature of upper limb phenotype","musculature of upper limb","humerus endochondral element","pectoral girdle skeleton phenotype","pectoral appendage musculature phenotype","Elbow contracture","Limb joint contracture","decreased length of tendon attached to elbow","decreased length of bone element","decreased length of skeletal element","Abnormal long bone morphology","decreased length of long bone","decreased length of organ","bulb of aorta","dilated ascending aorta","increased size of the subdivision of tube","aortic bulb aneurysm; aortic root aneurysm","bulb of aorta morphology phenotype","Aortic root aneurysm","material anatomical entity mass phenotype","Toe deformity","pedal digit phenotype","vasculature of central nervous system plus retina","Abnormal toe morphology","right cardiac chamber","pedal digit morphology phenotype","Abnormal elbow physiology","respiration organ","increased thickness of the organ","digit","femur phenotype","Abnormal esophagus physiology","abdominal segment of trunk","Abnormality of immune system physiology","iliac endochondral element","growth phenotype","size of multicellular organism phenotype","Growth abnormality","subdivision of organism along appendicular axis phenotype","decreased size of the bone of appendage girdle complex","increased height of the multicellular organism","skeleton of lower jaw phenotype","mesenchyme morphology phenotype","Thin upper lip vermilion","increased thickness of the organism subdivision","elliptic anatomical entity","helix of outer ear","Abnormal helix morphology","knee morphology phenotype","external ear","Thickened helices","increased size of the structure with developmental contribution from neural crest","Spondylolisthesis","increased thickness of the multicellular anatomical structure","artery","Melanocytic nevus","arterial blood vessel","temporofacial region","decreased thickness of the pes","cranial bone phenotype","decreased size of the lateral structure","Abnormality of globe location","increased response to stimulus","increased width of metatarsal bone","irregular bone","Abnormal morphology of bony orbit of skull","epithelium","facial skeleton morphology phenotype","cardiac atrium morphology phenotype","thoracic segment connective tissue","Shallow orbits","increased width of manual digit bone","transparent eye structure phenotype","digestive system physiology phenotype","eyeball of camera-type eye","Abnormal retinal morphology","localised anatomical structure","shape of anatomical entity phenotype","increased length of the subdivision of head","localised lens of camera-type eye","palmar part of manus phenotype","spondylolisthesis","increased width of phalanx of manus","glabella region of bone phenotype","increased width of segment of autopod","tendon","vasculature","increased response to stress in eyeball of camera-type eye","increased width of forelimb bone","structure with developmental contribution from neural crest physiology phenotype","Abnormal eye physiology","decreased size of the bone of free limb or fin","localised anatomical entity","organ component layer phenotype","Abnormal fundus morphology","increased width of subdivision of organism along appendicular axis","cornea phenotype","dense regular connective tissue phenotype","inflammatory response","forelimb zeugopod skeleton","calcareous tooth","material anatomical entity morphology in the heart phenotype","brain ventricle","innominate bone phenotype","increased inflammatory response","organ physiology phenotype","neural crest morphology phenotype","vessel phenotype","skeleton of pectoral complex","decreased length of manual digit","corneal epithelium morphology phenotype","exserted abdomen","vascular system morphology phenotype","increased response to stimulus in eyeball of camera-type eye","primary circulatory organ phenotype","hemolymphoid system","nervous system","Keratoconjunctivitis sicca","increased qualitatively biological_process","decreased size of the multi-tissue structure","increased biological_process in eyeball of camera-type eye","conjunctival sac","Abnormality of the vasculature of the eye","cornea morphology","pharyngeal arch phenotype","neural groove phenotype","increased size of the subdivision of head","neural crest phenotype","Abnormal conjunctiva morphology","increased number of multicellular anatomical structure","opaque lens of camera-type eye","vascular system","immune system phenotype","girdle skeleton phenotype","Abnormality of the immune system","increased qualitatively response to stimulus","decreased anatomical entity mobility","decreased width of the ectoderm-derived structure","decreased width of the multicellular anatomical structure","Narrow nose","decreased width of the nose","decreased size of the sense organ","structure with developmental contribution from neural crest atrophy","Narrow palate","integument","skin of body morphology phenotype","zone of organ phenotype","Lack of skin elasticity","Aplasia/Hypoplasia of the skin","decreased size of the organ","peripheral nervous system physiology phenotype","forelimb joint","Aplasia/hypoplasia involving bones of the extremities","Dermal atrophy","heart","skin of body phenotype","Abnormality of the integument","integument phenotype","metacarpal bone morphology phenotype","increased width of bone of free limb or fin","decreased width of the anterior chest","lobe of lung morphology phenotype","strand of hair phenotype","pathological process","Abnormality of lens shape","bronchopulmonary segment","absent subcutaneous adipose tissue","increased width of rib endochondral element","gross anatomical part","forelimb endochondral element","Tall stature","lung primordium","Abnormal cortical bone morphology","Inflammatory abnormality of the eye","pulmonary lobule","lateral structure physiology phenotype","Abnormal pinna morphology","increased size of the paired limb/fin segment","pathological phenotype observation","pathological entity","organ atrophy","parenchyma","multicellular anatomical structure morphology in the heart phenotype","facial skeleton","Small joint hypermobility","appendicular skeleton phenotype","increased size of the multicellular organism","Abnormal muscle tone","immaterial entity","Abnormal oral cavity morphology","vertebral column","dentition phenotype","oral cavity phenotype","integumentary system layer","jaw region","anatomical space","Abnormality of the mouth","decreased muscle organ mass","autopod region","endochondral bone phenotype","Abnormal oral morphology","dorsum of nose phenotype","dentition","anatomical wall","Hyperextensibility of the finger joints","Intellectual disability","digestive tract epithelium","keratoconjunctivitis","mandibular retrognathia; retrognathia","endoderm-derived structure phenotype","subdivision of digestive tract phenotype","skeleton of upper jaw phenotype","proximo-distal subdivision of respiratory tract","dense mesenchyme tissue","optic eminence morphology phenotype","synovial joint morphology phenotype","vasculature of eye morphology phenotype","vascular system physiology phenotype","absent anatomical entity","Keratitis","neural fold morphology phenotype","Intrauterine growth retardation","Abnormal respiratory system morphology","subdivision of tube","malformed anatomical entity","respiration organ phenotype","decreased width of the face","Abnormal lung morphology","Abnormality of blood and blood-forming tissues","endoderm morphology phenotype","endoderm of foregut","digestive system","Abnormality of the amniotic fluid","respiratory system physiology phenotype","decreased width of the anatomical entity","anatomical line between pupils","response to stress phenotype","non-neural ectoderm","foregut","Abnormal nasal bridge morphology","lower respiratory tract","endoderm-derived structure","premature anatomical entity closure","elbow","respiratory system phenotype","protruding eyeball of camera-type eye","cardiogenic splanchnic mesoderm phenotype","Hammertoe","digestive tract epithelium phenotype","Abnormal acetabulum morphology","tricuspid valve physiology phenotype","respiratory system morphology","pneumothorax","Abnormality of hand joint mobility","embryonic autopod plate","decreased length of anatomical entity attached to forelimb joint","increased thickness of the helix of outer ear","skin of body","Brachycephaly","pair of lungs","pleura phenotype","decreased skeletal joint mobility","cavitated compound organ","vasculature of head","absent multicellular anatomical structure in the tissue","appendage phenotype","incomplete closing of the vessel","manual digit plus metapodial segment","simple eye physiology phenotype","secondary palate","eyelash","increased anatomical entity mobility","skeletal joint phenotype","vasculature of organ","tendon morphology phenotype","decreased width of the sense organ","autopodial extension phenotype","aplasia or hypoplasia of manual digit","Metatarsus adductus","acropodium region","decreased qualitatively heart process","extraembryonic structure","innominate bone morphology phenotype","Thickened skin","skeletal joint","anatomical entity mobility phenotype","lung parenchyma","immune system","skeletal joint mobility phenotype","Abnormal digit morphology","multi-organism reproductive process","digit plus metapodial segment","mandibular prominence","multi organ part structure","skeletal joint physiology phenotype","Keratoconjunctivitis","valve morphology in the heart phenotype","limb joint","Prominent nasal bridge","proximal tarsal endochondral element","skin of body atrophy","Joint hypermobility","aplasia or hypoplasia of iris","response to stimulus","lip phenotype","Increased axial length of the globe","articulation","neural fold","anatomical structure, asymmetrically curved phenotype","digit morphology phenotype","blood circulation in lung blood vessel phenotype","metapodium bone phenotype","epithelial vesicle phenotype","Disproportionate tall stature","aplasia or hypoplasia of metacarpal bone","Abnormal forehead morphology","frontonasal prominence","manual digit metacarpus endochondral element phenotype","incomplete closing of the multicellular anatomical structure","epithelial vesicle","Abnormal skin morphology","proximal mesopodial endochondral element","thoracic skeleton","trunk connective tissue phenotype","postcranial axial skeletal system","axial skeletal system","vestibulo-auditory system","paraxial mesoderm phenotype","somite phenotype","Abnormality of pulmonary circulation","chest morphology phenotype","upper lip morphology phenotype","inflammatory response phenotype","material anatomical entity, asymmetrically curved phenotype","radio-ulna","lung bud morphology phenotype","decreased length of tissue","presumptive paraxial mesoderm","chest","splanchnic layer of lateral plate mesoderm","tooth-like structure","migrating mesenchyme population phenotype","paraxial mesoderm morphology phenotype","Abnormal rib morphology","increased height of the material anatomical entity","chest phenotype","pleura","rib phenotype","decreased length of tendon attached to forelimb joint","Red eye","bone of pectoral complex phenotype","midface","cartilaginous condensation phenotype","bone of pectoral complex","flat bone","pedal digitopodium bone phenotype","left cardiac atrium","Mitral stenosis","dilated aorta","proximo-distal subdivision of respiratory tract phenotype","increased width of material anatomical entity","Abnormal atrioventricular valve physiology","pigment epithelium of eye phenotype","Short long bone","cornea","ovate bony vertebral centrum","left cardiac chamber","pes bone phenotype","Abnormal upper lip morphology","left cardiac chamber phenotype","neural groove","cardiac valve physiology phenotype","decreased width of the subdivision of tube","cranial placode phenotype","lens of camera-type eye","external nose","arm","alveolar system morphology phenotype","sclerotome phenotype","Abnormal axial skeleton morphology","external nose morphology phenotype","ascending aorta morphology phenotype","increased length of the surface groove","helix of outer ear phenotype","vertebral centrum element","olfactory placode phenotype","head phenotype","cornea morphology phenotype","detached anatomical entity from anatomical entity","Aplasia/hypoplasia involving bones of the hand","mandible","external ectoderm","lobe of lung","Slender finger","vertebral column phenotype","epithelial bud","lung primordium phenotype","external ectoderm morphology phenotype","pectoral girdle bone","increased size of the sense organ","ectodermal placode phenotype","hypodermis","Mild intellectual disability","Ocular anterior segment dysgenesis","olfactory placode morphology phenotype","nose phenotype","upper leg bone phenotype","Increased inflammatory response","Small face","Ectopic calcification","spheroid anatomical entity","craniofacial/craniocervical phenotype","nose morphology phenotype","occurrent","neurogenic placode","Abnormal calvaria morphology","lower limb segment phenotype","trunk","Abnormal skull morphology","valve","thoracic segment organ phenotype","increased number of multicellular anatomical structure in the cerebrospinal fluid","sensory organ epithelium phenotype","anatomical junction phenotype","sloped anatomical entity","Broad phalanx","trunk region element phenotype","Abnormal pleura morphology","cardiac atrium phenotype","animal gross anatomical part developmental process","pulmonary acinus","acetabular part of hip bone","tube phenotype","organ phenotype","oligohydramnios","Nevus","thoracic segment of trunk","epithelial tube","hindlimb bone","head mesenchyme","Abnormal heart morphology","Abnormal ear morphology","heart morphology phenotype","tapered anatomical entity","foregut epithelium","heart tube phenotype","pharyngeal arch system","cardiac atrium","Retinal detachment","Mitral valve calcification","orbital region","skeleton of pelvic complex","Abnormality of digestive system physiology","Conjunctivitis","arm phenotype","increased thickness of the material anatomical entity","Abnormality of upper limb joint","increased width of long bone","hindlimb morphology phenotype","meso-epithelium","musculoskeletal system physiology phenotype","premature multicellular organismal process","Abnormality of the head","increased size of the hindlimb bone","dorsum of nose morphology phenotype","lower lip morphology phenotype","arm bone phenotype","decreased number of dense irregular connective tissue","compact bone tissue morphology phenotype","pectoral appendage bud phenotype","increased thickness of the anatomical entity","size of orbit of skull phenotype","decreased size of the pes","migrating mesenchyme population","mitral regurgitation; mitral valve regurgitation","decreased length of anatomical structure","cardia of stomach","musculature phenotype","Abnormal joint morphology","endoderm phenotype","subdivision of skeletal system","Talipes","Abnormal ocular adnexa morphology","limb endochondral element","paired limb/fin bud","morphological feature","Abnormal hip joint morphology","musculature of body phenotype","increased width of forelimb long bone","conjunctivitis","epithelial fold phenotype","vasculature of head phenotype","increased width of organ","gland morphology phenotype","developmental process","limb morphology phenotype","Abnormal tricuspid valve physiology","mesenchyme phenotype","increased size of the manus bone","premature skeletal joint closure","size of head phenotype","dermis","anatomical structure physiology phenotype","tarsal skeleton phenotype","increased width of multicellular anatomical structure","Abnormal lip morphology","outflow tract phenotype","increased size of the limb endochondral element","metatarsal bone morphology phenotype","Hyperextensibility of the knee","hindlimb bone phenotype","Abnormality of prenatal development or birth","cartilage element","Abnormal foot morphology","endocardial cushion","increased length of the philtrum","limb long bone morphology phenotype","anatomical structure atrophy","surface structure","sense organ physiology phenotype","incomplete closing of the arterial blood vessel","increased width of anatomical entity","dermal skeleton","alimentary part of gastrointestinal system","segment of manus","paraxial mesoderm","increased size of the head","limb segment","paired limb/fin","increased length of the immaterial anatomical entity","forelimb morphology phenotype","increased size of the limb long bone","eye physiology phenotype","pelvic appendage skeleton","cartilaginous condensation","tissue phenotype","metatarsus skeleton phenotype","Abnormal nasal dorsum morphology","hindlimb skeleton phenotype","Abnormal skeletal morphology","increased size of the endochondral element","Abnormal meningeal morphology","lateral structure phenotype","decreased size of the endochondral element","forelimb","forelimb bud","increased size of the anatomical line","dentary phenotype","increased width of hindlimb bone","anatomical entity calcification","metacarpus skeleton phenotype","increased length of the integumentary adnexa","biological_process","multi-limb segment region phenotype","external integument structure","valve physiology phenotype","increased height of the anatomical structure","pre-chordal neural plate phenotype","Cataract","metapodial skeleton","Atrioventricular valve regurgitation","size of mouth phenotype","pelvic complex","orbit of skull phenotype","decreased size of the subdivision of skeleton","subdivision of organism along main body axis","constricted aortic valve","increased length of the anatomical entity","bone of appendage girdle complex","Abnormal mitral valve physiology","decreased number of dense connective tissue in the multicellular organism","embryonic tissue","eye primordium","limb bud morphology phenotype","increased thickness of the structure with developmental contribution from neural crest","biological_process rate phenotype","dorsal region element","anatomical entity morphology in the appendage girdle complex phenotype","response to stress","size of anatomical entity phenotype","cardiac mesenchyme","Oligohydramnios","abdominal wall phenotype","digestive tract","material anatomical entity atrophy","bone of appendage girdle complex phenotype","vessel","hindlimb joint","increased width of manual digit metacarpus endochondral element","forelimb bud morphology phenotype","herniated anatomical entity","hindlimb long bone","skin epidermis morphology phenotype","decreased size of the connective tissue","naris phenotype","thoracic aorta morphology phenotype","cardiovascular system physiology phenotype","Abnormality of the pulmonary artery","skeletal system","tissue","gastroesophageal sphincter","mitral valve physiology phenotype","metatarsus region","pedal digit metatarsal endochondral element","Abnormal maxilla morphology","flat anatomical entity","Finger joint hypermobility","pigment epithelium of eye","increased width of pedal digit metatarsal endochondral element","head","Bulbous nose","transudate","autopod region morphology phenotype","neural crest-derived structure","pulmonary valve","autopod bone","non-material anatomical boundary phenotype","mitral valve","entire embryonic mesenchyme","bone of jaw phenotype","ocular surface region morphology phenotype","fundus morphology","premature parturition","skeleton","metatarsal bone phenotype","material anatomical entity phenotype","ilium phenotype","immaterial anatomical entity","Tip-toe gait","axial skeleton plus cranial skeleton phenotype","neural plate phenotype","increased width of limb bone","decreased length of limb bone","Progeroid facial appearance","increased number of brain ventricle in the cerebrospinal fluid","reproductive process","nose","increased size of the skeletal element","skeleton of pes","upper limb segment phenotype","trunk region element physiology phenotype","decreased muscle organ tone","decreased surface wetness of camera-type eye","Abnormality of the eye","decreased size of the organism subdivision","Abdominal symptom","germ layer phenotype","decreased qualitatively nervous system process","material anatomical entity","peripheral nervous system","pectoral girdle skeleton","Broad palm","oral cavity","nervous system phenotype","Scoliosis","system process phenotype","orifice","embryonic autopod plate morphology phenotype","manus","ilium","limb bud","Abnormality of joint mobility","Limited elbow movement","Broad skull","subdivision of skeleton phenotype","neuroectoderm","head mesenchyme phenotype","decreased length of subdivision of skeleton","Ectopia lentis","presumptive structure","manual digit morphology in the manus phenotype","phenotype","decreased length of autopod endochondral element","membrane bone phenotype","decreased size of the limb segment","embryo development","increased height of the anatomical entity","oral opening","morphological feature phenotype","aplasia or hypoplasia of skin of body","material anatomical entity, increased curvature phenotype","Positional foot deformity","skeleton phenotype","limb bone phenotype","anatomical structure mass phenotype","anatomical lobe","system","increased width of organism subdivision","multicellular organism","epithelial fold","nervous system process phenotype","incomplete closing of the interventricular septum","Abnormal tricuspid valve morphology","Thick lower lip vermilion","absent material anatomical entity in the multicellular organism","increased width of palmar/plantar part of autopod","decreased bone maturation in skeleton","hindlimb bud","premature multi-multicellular organism process","presumptive structure phenotype","neural crest","skeletal element phenotype","mitral valve anulus calcification","neural crest-derived structure phenotype","mesoderm","cardiogenic plate","exserted anatomical entity","non-connected functional system","decreased size of the orbit of skull","anatomical structure phenotype","blood vessel morphology phenotype","regional part of nervous system phenotype","lung phenotype","appendicular skeletal system","lens of camera-type eye morphology phenotype","abdomen element phenotype","decreased size of the manual digit","organ system subdivision","visual system phenotype","forelimb endochondral element phenotype","paired limb/fin bud mesenchyme","decreased number of multicellular anatomical structure in the multicellular organism","pectoral appendage phenotype","digestive system morphology phenotype","Mitral annular calcification","orbit of skull","increased size of the limb bone","immaterial anatomical entity phenotype","entity","Abnormality of limb bone","bone of free limb or fin","camera-type eye","autopod endochondral element","leg phenotype","hindlimb bud morphology phenotype","ventricular system of brain","lobule","pectoral complex","decreased system process","incomplete closing of the septum","skull","shape of continuant phenotype","metapodium region","cell condensation phenotype","hypertropia","autopod bone phenotype","decreased number of anatomical structure in the multicellular organism","subdivision of tube physiology phenotype","epithelial tube phenotype","alveolar system","increased height of the secondary palate","Abnormal adipose tissue morphology","metatarsus skeleton","endochondral element phenotype","asymmetrically curved anatomical entity","bone of hip region phenotype","limb segment phenotype","anlage phenotype","right cardiac atrium","tricuspid valve morphology phenotype","hindlimb phenotype","anatomical entity morphology in the skeleton of manus phenotype","pelvic appendage phenotype","cartilage element phenotype","increased size of the arterial blood vessel","Neurodevelopmental delay","long bone","decreased size of the long bone","leg","paired limb/fin bud phenotype","maxilla morphology","Abnormal lower limb bone morphology","cardiac valve","left cardiac atrium phenotype","split anatomical entity","hindlimb long bone phenotype","valve calcification","Abnormality of the knee","mouth","olfactory organ phenotype","decreased number of connective tissue","Large face","primary heart field phenotype","tarsal skeleton","limb long bone phenotype","Short digit","subdivision of trunk","mesenchyme from somatopleure","irregular bone phenotype","Exotropia","respiratory system morphology phenotype","decreased size of the lip","Abnormal external nose morphology","Slanting of the palpebral fissure","manual digitopodium region","Abnormal cornea morphology","palmar part of manus","Broad metatarsal","Abnormality of the musculoskeletal system","decreased thickness of the anatomical entity","increased inflammatory response in eyeball of camera-type eye","body proper","increased width of pes bone","Myopia","skeletal system morphology phenotype","developing mesenchymal condensation","organism subdivision","increased size of the abdominal viscera","segment of pes","atrioventricular region","camera-type eye physiology phenotype","Abnormal scapula morphology","phenotypic effect","anatomical entity morphology phenotype","anatomical entity","bone of hip region","external nose phenotype","musculoskeletal movement","skull phenotype","somite","limb skeleton subdivision","Smooth philtrum","blood vasculature","ear","neurectoderm phenotype","membrane organ","increased size of the immaterial anatomical entity","pulmonary acinus morphology phenotype","external soft tissue zone","Limitation of joint mobility","organ","nose tip morphology phenotype","increased width of bone of appendage girdle complex","appendage","dense irregular connective tissue phenotype","structure with developmental contribution from neural crest","vasculature of eye","right cardiac atrium morphology phenotype","anatomical entity atrophy","ectoderm-derived structure physiology phenotype","prominent nasal bridge","decreased qualitatively anatomical structure development","increased size of the anatomical structure","decreased size of the material anatomical entity","decreased width of the secondary palate","viscus phenotype","spherophakia","appendicular skeleton morphology phenotype","pectoral appendage","Aplasia/hypoplasia involving bones of the upper limbs","intramembranous bone phenotype","decreased size of the subdivision of head","number of anatomical enitites of type dense connective tissue phenotype","integumentary system layer phenotype","Abnormality of the lower limb","manual digitopodium bone phenotype","increased size of the pes bone","anatomical entity hypoplasia","vasculature phenotype","increased size of the endochondral bone","pes","hindlimb endochondral element","parenchyma phenotype","germ layer","palmar/plantar part of autopod","increased size of the bone of pelvic complex","Abnormal joint physiology","external soft tissue zone phenotype","multicellular organism morphology phenotype","continuant","aplasia or hypoplasia of anatomical entity","nose tip phenotype","calcaneum endochondral element phenotype","vasculature of central nervous system plus retina phenotype","increased width of segment of manus","subdivision of skeletal system phenotype","incomplete closing of the anatomical entity","material entity","appendage girdle complex","anatomical structure","shallow orbits","pes phenotype","olfactory organ","skeletal system phenotype","animal organ development","decreased size of the subdivision of organism along appendicular axis","manual digit metacarpus endochondral element","pharyngeal arch 1 phenotype","endochondral element","surface structure phenotype","lipodystrophy","respiratory tract","brain ventricle morphology phenotype","anterior segment of eyeball","increased size of the liver","anatomical entity morphology in the manus phenotype","posterior segment of eyeball morphology phenotype","increased size of the forehead","sharp anatomical entity","developmental or adult structural  defect","superficial fascia","annulus fibrosus","tarsal region phenotype","decreased size of the paired limb/fin segment","decreased qualitatively embryo development","increased size of the upper limb segment","sclerotome","vision/eye phenotype","section of aorta","cardiogenic plate morphology phenotype","increased size of the bone of pectoral complex","tissue specific degenerative process","paired limb/fin skeleton","incomplete closing of the anatomical wall","limb bud phenotype","Abnormality of the pulmonary vasculature","eyeball of camera-type eye phenotype","Abnormality of the skin","independent continuant","cardiac septum","primary subdivision of skull phenotype","orbit of skull morphology phenotype","multicellular anatomical structure phenotype","exocrine gland phenotype","bone element","skeletal joint morphology phenotype","subdivision of organism along appendicular axis","Short nose","mesoderm phenotype","pes morphology phenotype","Thoracic aortic aneurysm","pedal digit metatarsal endochondral element phenotype","Mitral regurgitation","right atrium valve","pelvic appendage bud","bone of free limb or fin phenotype","forelimb phenotype","increased width of autopodial extension","decreased width of the organism subdivision","manual digit 5 metacarpus endochondral element phenotype","increased size of the hindlimb endochondral element","Abnormal hand morphology","decreased size of the anatomical entity","ventricular system of central nervous system","thoracic segment organ physiology phenotype","Abnormality of limbs","increased width of skeletal element","anatomical conduit phenotype","spinal cord","process","multicellular anatomical structure","long bone morphology phenotype","Pulmonary arterial hypertension","motor delay; motor developmental delay","decreased size of the multicellular organism","foregut phenotype","outflow part of left atrium","Abnormal nasal tip morphology","decreased width of the anatomical structure","embryo morphology phenotype","ecchymosis","Opisthokonta","Pneumothorax","cell condensation","increased size of the hindlimb long bone","camera-type eye phenotype","increased number of anatomical entity in the cerebrospinal fluid","organ component layer","increased thickness of the anatomical structure","Congenital onset","process of degenerative change","Abnormal finger morphology","increased size of the bone of free limb or fin","increased width of limb endochondral element","unilaminar epithelium phenotype","lateral plate mesoderm","decreased size of the autopod region","digestive system element phenotype","fibrous joint","location of digestive system element phenotype","Abnormal appendicular muscle morphology","ecto-epithelium phenotype","blood vessel phenotype","exocrine gland","Onset","face morphology phenotype","skeletal tissue calcification","Abnormal musculoskeletal physiology","shape of epiphysis phenotype","Phenotypic abnormality","increased width of bone of pectoral complex","posterior region of body","medial nasal prominence","premature multi-organism reproductive process","incomplete closing of the ductus arteriosus","subdivision of trunk phenotype","decreased size of the endochondral bone","defense response","sternum phenotype","reproductive process phenotype","embryo","medial nasal prominence morphology phenotype","future central nervous system","outflow part of left ventricle","iris hypoplasia","lens of camera-type eye phenotype","digestive system phenotype","optic eminence","abdominal segment element","cardiac chamber","embryo phenotype","sensory organ epithelium","limb","segment of autopod","manus bone phenotype","structure with developmental contribution from neural crest phenotype","visual perception","decreased size of the multicellular anatomical structure","mesoderm morphology phenotype","craniocervical region morphology phenotype","increased size of the long bone","musculature","brain ventricle phenotype","endoderm of foregut phenotype","Thin vermilion border","increased width of endochondral bone","blastula","vault of skull phenotype","ductus arteriosus morphology phenotype","anatomical cluster","decreased width of the organ","vertebral column morphology phenotype","limb skeleton subdivision phenotype","appendicular skeleton","tunica fibrosa of eyeball","skeletal element","Aplasia/Hypoplasia affecting the anterior segment of the eye","constricted anatomical entity","Tricuspid valve prolapse","decreased number of anatomical entity","zone of bone organ","bone of pelvic complex phenotype","increased size of the anatomical conduit","Abnormal heart valve morphology","sense organ phenotype","eye","craniofacial suture phenotype","uvea","axial skeleton plus cranial skeleton morphology phenotype","protruding anatomical entity","mesopodium bone phenotype","subdivision of digestive tract","abdomen","scapula","increased width of limb segment","pre-chordal neural plate","vertebral canal","musculature of body","biscupidate anatomical entity","increased size of the anatomical entity","lateral plate mesoderm morphology phenotype","Abnormal liver morphology","Knee flexion contracture","organ system subdivision phenotype","skeleton of limb","constricted mitral valve","trunk mesenchyme phenotype","manual digit phenotype","increased width of metapodium bone","dermal skeleton phenotype","hip joint morphology phenotype","aortic system","paired limb/fin segment phenotype","endo-epithelium","leg bone phenotype","multicellular anatomical structure atrophy","lateral plate mesoderm phenotype","limb mesenchyme morphology phenotype","external integument structure phenotype","Abnormal eye morphology","location of eyeball of camera-type eye phenotype","jugal bone","Abnormality of skeletal maturation","bone of pelvic complex","Abnormal muscle physiology","red eye","presomitic mesoderm","Pre-capillary pulmonary hypertension","increased size of the organ system subdivision","increased width of limb long bone","Premature osteoarthritis","vestibulo-auditory system phenotype","Tooth malposition","increased size of the forelimb bone","increased size of the manual digit","Abnormality of head or neck","limb bone","decreased length of autopod bone","decreased size of the bone of pectoral complex","rib skeletal system","eye phenotype","heart tube","heart contraction rate phenotype","increased width of pedal digitopodium bone","anatomical space phenotype","serous membrane phenotype","Premature birth","compound organ phenotype","craniocervical region phenotype","aorta phenotype","increased size of the multicellular anatomical structure","endoderm","sensory perception of light stimulus","decreased length of material anatomical entity","metacarpus skeleton","anatomical system","hepatobiliary system phenotype","skeletal tissue phenotype","circulatory system phenotype","organ part phenotype","increased width of manual digit phalanx endochondral element","external ear phenotype","increased width of hindlimb long bone","rib endochondral element","Abnormal thorax morphology","increased size of the bone element","primary circulatory organ","increased width of bone of pelvic complex","digitopodium bone","neurocranium bone phenotype","simple eye","increased width of digitopodium bone","anatomical collection phenotype","increased biological_process","flattened anatomical entity","non-neural ectoderm phenotype","Craniosynostosis","Abnormality of skull size","Upper-limb joint contracture","decreased width of the olfactory organ","anterior lateral plate mesoderm","eye morphology","pleural sac","respiratory primordium","subcutaneous adipose tissue phenotype","thoracic rib cage","lung morphology phenotype","aortic aneurysm","dense mesenchyme tissue phenotype","presumptive ectoderm","hepatobiliary system","increased size of the material anatomical entity","limb mesenchyme","developmental maturation","respiratory system blood vessel","appendage girdle region phenotype","immune system physiology phenotype","increased size of the bone of appendage girdle complex","nasal bridge","increased width of the anatomical entity in pectoral complex","Abdominal distention","embryonic structure phenotype","increased width of autopod endochondral element","paired limb/fin bud mesenchyme phenotype","alimentary part of gastrointestinal system physiology phenotype","aplasia or hypoplasia of metatarsal bone","palmar part of manus morphology phenotype","pelvic appendage skeleton phenotype","digit phenotype","lens luxation","germ layer / neural crest phenotype","number of anatomical enitites of type multicellular anatomical structure phenotype","subdivision of tube phenotype","Abnormal sternum morphology","cardiopharyngeal field","absent multicellular anatomical structure","increased number of ventricle of nervous system","absent system process","mouth morphology phenotype","Reduced visual acuity","anatomical structure, increased curvature phenotype","increased size of the subdivision of organism along appendicular axis","pelvic region of trunk","emphysema","decreased organ mass","articulation phenotype","decreased size of the ectoderm-derived structure","girdle bone/zone phenotype","anatomical system physiology phenotype","shape of face phenotype","cardiovascular system phenotype","preorbital bone region","anterior chamber of eyeball","decreased length of tendon attached to pedal digit","embryonic tissue phenotype","Narrow foot","constricted outflow part of left ventricle","Abnormal inflammatory response","vascular plexus phenotype","Abnormality of the palpebral fissures","increased width of hindlimb endochondral element","increased size of the autopod bone","anatomical entity morphology in the skeleton of pelvic complex phenotype","bone element phenotype","concave sternum","immature eye phenotype","heart layer morphology phenotype","thoracic cavity element phenotype","Aplasia/hypoplasia involving the skeleton","multicellular organism development","increased curvature longitudinal arch of pes","eye epithelium","subdivision of organism along main body axis phenotype","autopod endochondral element phenotype","decreased size of the bone element","increased width of autopod bone","Short stature","head morphology phenotype","sensory system","ectoderm-derived structure","pectoral appendage skeleton phenotype","right cardiac atrium phenotype","articular system","photoreceptor array phenotype","gastrula morphology phenotype","anatomical entity morphology in the skeleton of pectoral complex phenotype","Abnormality of the skeletal system","anatomical projection phenotype","bent digit","right cardiac chamber phenotype","optic cup morphology phenotype","metacarpus region","optic cup","number of anatomical enitites of type anatomical structure phenotype","Umbilical hernia","embryo development phenotype","Abnormal anterior eye segment morphology","mesenchyme from somatopleure phenotype","increased size of the limb segment","detached anatomical entity from retina","future central nervous system phenotype","cranial skeletal system phenotype","facial skeleton phenotype","neural crest-derived structure physiology phenotype","organ part","decreased multicellular anatomical structure mass","entire sense organ system","multi-tissue structure","decreased length of autopodial extension","Hydrocephalus","Abnormal rib cage morphology","anatomical structure development","anatomical entity phenotype","optic vesicle phenotype","face","Shallow anterior chamber","blood","defense response phenotype","bone of pectoral complex morphology phenotype","multi-tissue structure phenotype","decreased anatomical entity strength","skull morphology phenotype","decreased size of the anatomical structure","mitral valve anulus","skeleton of manus","lower jaw region","Abnormal metatarsal morphology","anterior neural tube phenotype","Abnormality of the outer ear","connective tissue","increased width of manus bone","mitral valve morphology phenotype","epithelium phenotype","increased length of the organism subdivision","manual digitopodium bone","gland","Vascular skin abnormality","Abnormal knee physiology","sclerotome morphology phenotype","subdivision of head phenotype","atrioventricular valve physiology phenotype","fibrous ring of heart","anterior region of body","forelimb bone phenotype","umbilical cord phenotype","multicellular organism height phenotype","eye epithelium phenotype","All","decreased size of the surface structure","gastrula","decreased size of the digit","anlage","Macrocephaly","Striae distensae","sense organ","camera-type eye morphology phenotype","neural fold phenotype","sensory system phenotype","endocrine system","paired limb/fin phenotype","Abnormal vertebral body morphology","anatomical entity morphology in the pelvic complex phenotype","anterior neural tube","Abnormal anterior chamber morphology","cellular organisms","ductus arteriosus","valve phenotype","oral cavity morphology phenotype","pes bone","increased width of metacarpal bone","absent material anatomical entity in the tissue","pedal digitopodium bone","unilaminar epithelium","visual system","Prematurely aged appearance","chamber of eyeball","dilated bulb of aorta","simple eye phenotype","Abnormal midface morphology","Eukaryota","corneal epithelium","organ subunit","increased size of the lateral structure","primary subdivision of skull","Abnormal cardiac septum morphology","Narrow nasal ridge","anatomical junction","increased height of the multicellular anatomical structure","hindlimb endochondral element phenotype","skeleton of limb phenotype","abdominal distention; distended abdomen","forelimb bud phenotype","developing mesenchymal condensation phenotype","upper limb segment","circulatory system","skeleton of manual digitopodium","Emphysema","organism substance phenotype","arterial blood vessel phenotype","increased width of forelimb endochondral element","forelimb bone","asymmetrically curved cornea","increased size of the integumentary adnexa","skeleton of digitopodium","Short metatarsal","anatomical wall phenotype","Pectus excavatum","dermatocranium phenotype","lung bud","pharyngeal arch 1 morphology phenotype","increased size of the forelimb long bone","Abnormality of the dentition","malformed chamber of eyeball","manus phenotype","rib","Abnormal limb bone morphology","olfactory placode","aortic valve morphology phenotype","metapodial skeleton phenotype","forelimb long bone phenotype","pedal digit","absent visual perception","increased size of the thoracic cavity blood vessel","multi organ part structure physiology phenotype","jaw skeleton morphology phenotype","Morphological central nervous system abnormality","pectoral appendage skeleton","voluntary musculoskeletal movement phenotype","skeleton of lower jaw","bending of material anatomical entity","skeletal joint morphology in the pectoral complex phenotype","manus bone","metacarpal bone","serous membrane","increased size of the abdomen element","outflow tract","Broad metacarpals","musculoskeletal movement phenotype","Abnormal metacarpal morphology","viscus physiology phenotype","metacarpal bone phenotype","eye primordium phenotype","zone of stomach","Abnormality of the upper limb","increased size of the forelimb endochondral element","visual perception phenotype","cardiac septum phenotype","brain ventricle/choroid plexus","atrioventricular valve","forelimb skeleton phenotype","integumental system","anatomical cluster phenotype","location of lens of camera-type eye phenotype","increased length of the integumentary projection","organ subunit phenotype","ectoderm-derived structure phenotype","Abnormal upper limb bone morphology","ocular adnexa phenotype","cardiac ventricle phenotype","pharyngeal arch morphology phenotype","mesenchyme","mesoderm-derived structure","forelimb zeugopod","vertebra","forelimb skeleton","Abnormal epiphysis morphology","lower limb segment","heart primordium phenotype","Abnormal hip bone morphology","ascending aorta","anatomical conduit","elbow phenotype","circulatory system process phenotype","shape of external ear phenotype","Abnormality of the nose","cardiac valve phenotype","multicellular anatomical structure physiology phenotype","ectoderm-derived structure, curved phenotype","protruding tricuspid valve","Proptosis","localised organ","organ system subdivision, increased curvature phenotype","meso-epithelium phenotype","increased width of manual digitopodium bone","snout morphology phenotype","compound organ","primordium","localised bone element","optic vesicle","heart plus pericardium","regular connective tissue","circulatory system process","anatomical collection","cardiovascular system morphology phenotype","meningeal cluster","exserted tricuspid valve","Cardiac valve calcification","cardiovascular system","Abnormal brain morphology","thoracic cavity element","manus morphology phenotype","atrioventricular valve morphology phenotype","trunk phenotype","zone of stomach phenotype","Abnormal cardiovascular system morphology","primary heart field","dilated anatomical entity","cardiac mesenchyme phenotype","Pulmonic stenosis","conjunctiva","viscus","ocular adnexa","circulatory organ","outflow tract of atrium","Abnormality of the cardiovascular system","palpebral fissure","strabismus","trunk region element","increased thickness of the skin of body","Abnormal heart valve physiology","Abnormal lens morphology","digitopodium region","tube","tetrapod frontal bone phenotype","splanchnic layer of lateral plate mesoderm phenotype","respiratory system","epiphysis morphology phenotype","endochondral bone","Abnormal aortic valve physiology","posterior segment of eyeball","semi-lunar valve","increased width of upper limb segment","slender anatomical entity","cardiac ventricle morphology phenotype","glabella region","constricted semi-lunar valve","cerebrospinal fluid morphology phenotype","increased size of the abdominal segment element","deeply set eye; enophthalmos","pinna","semi-lunar valve morphology phenotype","increased skeletal joint mobility","cardiac ventricle","Ventricular septal defect","liver phenotype","outflow part of left ventricle morphology phenotype","heart left ventricle","Abnormal nervous system morphology","aortic valve physiology phenotype","vasculature of organ phenotype","olfactory system phenotype","heart left ventricle morphology phenotype","vocal organ phenotype","vocal organ","Abnormality of the voice","organ system subdivision, curved phenotype","roof of mouth morphology phenotype","limb endochondral element phenotype","increased qualitatively inflammatory response","lung vasculature phenotype","Abnormal palate morphology","heart layer","midface phenotype","immature eye","roof of mouth","secondary palate morphology phenotype","upper jaw region","Abnormal abdomen morphology","cardiac valve calcification","hindlimb","decreased width of the roof of mouth","anatomical entity height phenotype","decreased size of the roof of mouth","liver morphology phenotype","decreased width of the multi-tissue structure","behavior phenotype","Narrow face","decreased width of the subdivision of head","Visceromegaly","size of face phenotype","Abnormal corneal epithelium morphology","decreased size of the face","main body axis","retina phenotype","Pes planus","upper lip phenotype","lip morphology phenotype","philtrum phenotype","decreased size of the organ part","protuberance phenotype","developing mesenchymal structure","surface groove","systemic arterial system","pharyngeal arch","craniocervical region","Abnormality of the hand","lip","Osteoarthritis","Abnormality of the philtrum","Deep philtrum","response to stimulus phenotype","joint of girdle","protuberance","digestive system element","pes joint","upper lip","pharyngeal region of foregut","aplasia or hypoplasia of phalanx of manus","eyelid morphology phenotype","zone of organ","chorioretinal region","retina","Abnormal posterior eye segment morphology","Abnormal appendicular skeleton morphology","detached eyeball of camera-type eye from anatomical entity","detached eyeball of camera-type eye from retina","photoreceptor array","Abnormality of body height","nervous system morphology phenotype","exserted mitral valve","Abnormal mitral valve morphology","Mitral valve prolapse","protruding mitral valve","telencephalon phenotype","anatomical entity hypoplasia in face","liver","head bone phenotype","head bone","embryonic facial prominence","aplasia or hypoplasia of maxilla","maxilla","facial bone","neurogenic placode phenotype","pectoral appendage bud","Hypoplasia of the maxilla","dermal skeletal element phenotype","increased width of organ system subdivision","midface morphology phenotype","dermatocranium","bone of upper jaw","hematopoietic system","facial bone phenotype","flat nasal bridge","eyelid phenotype","increased width of skull","muscle structure mass phenotype","maxilla hypoplasia","bone element hypoplasia in face","dermal skeletal element","stomach phenotype","primary subdivision of cranial skeletal system phenotype","malformed organ subunit","membrane bone","Glaucoma","neural plate morphology phenotype","pneumatized bone","intramembranous bone","mesopodial skeleton","Short foot","bone of craniocervical region","dermal bone","Abnormal ventricular septum morphology","facial bone hypoplasia","primary subdivision of cranial skeletal system","bone of jaw","size of eyeball of camera-type eye phenotype","integumentary adnexa","skeleton of upper jaw","Abnormality of the digestive system","integumentary projection","decreased length of paired limb/fin segment","Abnormality of the ear","pedal digit plus metapodial segment","dermal bone phenotype","Abnormal jaw morphology","bone of upper jaw phenotype","Strabismus","bone of craniocervical region phenotype","Abnormal facial skeleton morphology","behavior process phenotype","increased number of material anatomical entity","non-material anatomical boundary","multicellular organismal process phenotype","Abnormality of eye movement","shape of bony vertebral centrum phenotype","increased length of the manual digit","autopodial extension","mouth phenotype","body part movement","location of camera-type eye phenotype","Heterotropia","exotropia","Exodeviation","anatomical line","helix of outer ear morphology phenotype","eye movement","anatomical line phenotype","Abnormal conjugate eye movement","increased size of the trunk region element","Abnormal curvature of the vertebral column","cranial placode","multicellular organismal process","heart primordium","multicellular anatomical structure, asymmetrically curved phenotype","Clinical course","kinesthetic behavior","behavior process","endocardial cushion morphology phenotype","Abnormal vascular physiology","forelimb stylopod","decreased number of material anatomical entity","neural crest-derived structure morphology in the heart phenotype","cavitated compound organ phenotype","biscupidate aortic valve","sharpness anatomical entity","pleura morphology phenotype","decreased qualitatively biological_process","localised transparent eye structure","Blindness","cardiac valve morphology in the heart phenotype","cusp of cardiac valve","serous sac","mitral valve anulus morphology phenotype","endocardium morphology phenotype","ear morphology phenotype","organ part morphology in the heart phenotype","heart layer phenotype","endocardium phenotype","flat philtrum","bone of lower jaw","presomitic mesoderm morphology phenotype","shape of aortic valve phenotype","Abnormality of the glabella","pelvic girdle skeleton phenotype","tunica intima phenotype","structure with developmental contribution from neural crest morphology in the heart phenotype","Respiratory insufficiency","Bicuspid aortic valve","ectoderm-derived structure morphology in the heart phenotype","knee phenotype","secondary pulmonary lobule","aortic valve cusp morphology phenotype","cardiac mesenchyme morphology phenotype","endocardial cushion phenotype","increased length of the cutaneous appendage","endocardium","concave anatomical entity","increased width of phalanx","tunica intima","decreased size of the forelimb bone","mesenchyme derived from neural crest phenotype","anatomical structure morphology in the heart phenotype","Abnormal aortic valve cusp morphology","cardiac chamber phenotype","anatomical entity morphology in the heart phenotype","decreased size of the limb long bone","Abnormal aortic valve morphology","aortic valve cusp","brain ventricle/choroid plexus morphology phenotype","circular face","Round face","increased size of the organism subdivision","2-D shape anatomical entity","trunk bone","prominent anatomical entity","mandibular prominence morphology phenotype","Abnormal lower lip morphology","orifice phenotype","biological_process phenotype","prominent lower lip","blood island","decreased thickness of the lip","lower lip","Joint stiffness","shape of digit phenotype","shape of manual digit phenotype","shape of anatomical entity in pectoral complex phenotype","Hyperdeviation","Arachnodactyly","decreased surface wetness of anatomical entity","decreased biological_process","thoracic cavity blood vessel phenotype","slender manual digit","increased length of the face","Abnormal pelvic girdle bone morphology","hindlimb joint phenotype","multicellular anatomical structure, increased curvature phenotype","increased size of the autopodial extension","increased size of the digit","structure with developmental contribution from neural crest, curved phenotype","Long fingers","embryonic tissue morphology phenotype","increased length of the multicellular anatomical structure","muscle structure phenotype","frontonasal prominence morphology phenotype","increased length of the material anatomical entity","increased length of the anatomical structure","increased length of the autopodial extension","joint contracture","cerebrospinal fluid","esophagus physiology phenotype","increased length of the digit","Abnormal palm morphology","atrioventricular valve regurgitation","integumentary adnexa physiology phenotype","integumentary adnexa phenotype","forehead","zone of skin","hematopoietic system phenotype","Abnormal bleeding","Generalized abnormality of skin","subcutaneous hemorrhage","haemolymphatic fluid","Bruising susceptibility","disconnected anatomical group","system process","hemorrhage and non-specified extravasation","zone of skin morphology phenotype","Subcutaneous hemorrhage","Metazoa","osteoarthritis","Abnormal cranial suture/fontanelle morphology","heart tube morphology phenotype","nonsynovial joint","muscle organ physiology phenotype","esotropia","neurocranium","absent dense connective tissue in the multicellular organism","multicellular anatomical structure calcification","endocrine system phenotype","fibrous joint phenotype","cartilaginous neurocranium phenotype","neurocranium phenotype","left cardiac atrium morphology phenotype","presumptive ectoderm phenotype","development of anatomical entity phenotype","cranium","dorsum of nose","Abnormality of upper lip vermillion","cartilaginous neurocranium","decreased size of the lower limb segment","vault of skull","craniofacial suture","naris","mesenchyme derived from neural crest","nonsynovial joint phenotype","Protuberant abdomen","Abnormality of cranial sutures","decreased size of the skeletal element","increased width of palmar part of manus","increased size of the face","anatomical entity length phenotype","increased size of the exocrine gland","manual digit digitopodial skeleton","decreased qualitatively multicellular organismal process","philtrum","sensory perception of light stimulus phenotype","decreased qualitatively system process","decreased size of the structure with developmental contribution from neural crest","Abnormal respiratory system physiology","umbilical cord","localised skeletal element","cranial skeletal system","hip joint","Abnormality iris morphology","decreased qualitatively sensory perception of light stimulus","metapodium bone","pelvic region element","increased width of rib","decreased visual acuity; reduced visual acuity","postcranial axial skeleton","ectoderm","absent multicellular organismal process","absent sensory perception","sensory perception","constricted vertebral canal","structure with developmental contribution from neural crest, asymmetrically curved phenotype","pelvic girdle skeleton","sensory perception phenotype","subdivision of head","Abnormality of vision","decreased qualitatively sensory perception","organism substance","integumental system phenotype","biological_process in lung blood vessel phenotype","developing anatomical structure phenotype","pulmonary artery","bone tissue phenotype","great vessel of heart","trunk blood vessel","trunk blood vessel phenotype","blood circulation","decreased length of tendon attached to digit","biological_process in digestive tract phenotype","Abnormal cheek morphology","increased thickness of the subdivision of head","skeletal tissue","Elevated pulmonary artery pressure","endocrine gland phenotype","bodily fluid","pulmonary vascular system","decreased developmental process","decreased length of autopodial skeleton","thoracic cavity blood vessel","decreased length of organ system subdivision","Abnormality of the respiratory system","Aplasia/hypoplasia of the extremities","gland phenotype","vasculature of eye phenotype","aplasia or hypoplasia of skeleton","decreased length of anatomical entity","Aplasia/Hypoplasia involving bones of the feet","decreased length of skeleton of pes","heart phenotype","decreased length of limb skeleton subdivision","ectoderm-derived structure calcification","decreased length of multicellular anatomical structure","subdivision of skeletal system, curved phenotype","Aplasia/hypoplasia involving bones of the lower limbs","Abnormality of the orbital region","Abnormal atrioventricular valve morphology","cheek phenotype","hindlimb zeugopod skeleton","germ layer / neural crest","Full cheeks","anatomical projection","cheek","increased volume of anatomical entity","cheek morphology phenotype","hypertrophic cheek","increased size of the external soft tissue zone","hypertrophic multicellular anatomical structure","embryonic development/birth phenotype","late embryo phenotype","decreased length of anatomical entity attached to elbow","increased width of paired limb/fin segment","late embryo","multi-organism reproductive process phenotype","premature biological_process","decreased qualitatively anatomical structure maturation","anatomical system phenotype","parturition","multi-multicellular organism process","sloped downward anatomical entity","Long eyelashes","interventricular septum","anatomical entity thickness phenotype","fibrocartilage","Lipodystrophy","cutaneous appendage phenotype","Aortic regurgitation","opening of the anatomical entity","Broad long bones","strand of hair","increased size of the organ part","shoulder bone phenotype","respiratory system blood vessel phenotype","integumentary projection phenotype","paired limb/fin segment","protruding acetabular part of hip bone","gastrointestinal sphincter","increased length of the morphological feature","Dental crowding","skin epidermis phenotype","retina morphology phenotype","adipose tissue phenotype","outer epithelium","pharyngeal arch 1","compact bone tissue phenotype","Feeding difficulties in infancy","increased length of the strand of hair","cardiac valve morphology phenotype","Flexion contracture","Hypertelorism","Abnormal eyelid morphology","eyelash morphology phenotype","pilosebaceous unit","limb phenotype","increased size of the olfactory organ","increased length of the eyelash","increased length of the anatomical projection","multicellular anatomical structure mass phenotype","outer epithelium phenotype","eyelash phenotype","meninx of spinal cord","decreased circulatory system process","multi organ part structure phenotype","pilosebaceous unit morphology phenotype","increased length of the organ part","orbital region phenotype","Abnormal skin adnexa morphology","Increased blood pressure","incomplete closing of the heart blood vessel","skin epidermis","increased size of the endocrine gland","anterior chamber of eyeball morphology phenotype","cutaneous appendage","decreased width of the subdivision of digestive tract","dermis phenotype","increased size of the morphological feature","size of skull phenotype","size of autopod region phenotype","Abnormal hair morphology","manual digit","integumentary adnexa morphology phenotype","skin vasculature morphology; vascular skin abnormality","eyelid","embryonic craniocervical region","chest hypoplasia","Narrow chest","anterior chest","Thoracic hypoplasia","Abnormal pulmonary valve physiology","constricted pulmonary valve","pulmonary valve morphology phenotype","Esotropia","Esodeviation","curvature anatomical entity","increased number of organ component layer","neural crest-derived structure, asymmetrically curved phenotype","ectodermal placode","outflow tract of ventricle phenotype","incomplete closing of the abdominal wall","Adult onset","ectoderm-derived structure, asymmetrically curved phenotype","Abnormality of refraction","Depressed glabella","dense connective tissue phenotype","Astigmatism","Cardiovascular calcification","anatomical structure, curved phenotype","decreased size of the multicellular anatomical structure in the pectoral complex","material anatomical entity, curved phenotype","shape of cornea phenotype","absent biological_process","neural crest-derived structure, curved phenotype","amniotic fluid phenotype","umbilicus","amniotic fluid","Dolichocephaly","Anteverted nares","protruding sternum","sternum","Pectus carinatum","respiratory airway","Abnormality of the ocular adnexa","sternum morphology phenotype","Pes cavus","triangular face","triangular anatomical entity","decreased size of the anatomical structure in the pectoral complex","Broad ribs","Triangular face","nasal bridge morphology phenotype","nasal bridge phenotype","thoracic cavity element physiology phenotype","body wall","snout","size of forehead phenotype","Broad forehead","absent anatomical entity in the multicellular organism","Ascending aortic dissection","increased width of bone element","increased width of forehead","increased size of the blood vessel","forehead phenotype","forehead morphology phenotype","heart contraction phenotype","eye movement phenotype","Pulmonary artery dilatation","increased width of subdivision of head","Congestive heart failure","increased number of organ part","muscle organ","jaw skeleton","Autosomal dominant inheritance","Abnormality of the curvature of the cornea","heart process phenotype","pelvic appendage bud phenotype","vascular plexus","Abnormal facial shape","decreased heart process","decreased heart contraction","decreased length of endochondral bone","pelvic girdle region","increased width of endochondral element","heart contraction","foregut epithelium phenotype","decreased qualitatively heart contraction","heart process","absent irregular connective tissue","subdivision of skeleton","organ part calcification","decreased qualitatively circulatory system process","septum","decreased multicellular organismal process","anatomical point","hip joint phenotype","anterior segment of eyeball morphology phenotype","anatomical point phenotype","number of anatomical enitites of type material anatomical entity phenotype","nose tip","increased size of the ectoderm-derived structure","thoracic rib cage morphology phenotype","increased volume of nose","Hernia","Elbow flexion contracture","entire extraembryonic component","incomplete closing of the material anatomical entity","herniated abdominal wall","developmental process phenotype","skeletal system development","cell","Aortic valve stenosis","conceptus","Stiff skin","abdomen element","decreased size of the forelimb long bone","hypertension","abdominal viscera","Thick vermilion border","umbilicus morphology phenotype","esophagus phenotype","Hepatomegaly","herniated umbilical cord","digestive system gland phenotype","increased size of the autopod endochondral element","Abnormality of connective tissue","Abnormality of the vasculature","increased defense response in eyeball of camera-type eye","exocrine system","Young adult onset","incomplete closing of the anatomical structure","primordium phenotype","increased height of the roof of mouth","number of anatomical entities of type anatomical entity in blood phenotype","Abnormal abdominal wall morphology","connective tissue phenotype","Hernia of the abdominal wall","cell phenotype","extraembryonic structure phenotype","Limited elbow extension","abdominal wall","ala of nose morphology phenotype","Abnormal umbilicus morphology","hindlimb bud phenotype","incomplete closing of the organ part","Long face","embryonic head","embryonic nasal process","Abnormality of the musculature","ocular surface region","maxillary prominence","shape of anatomical entity in lip phenotype","anatomical structure maturation phenotype","tricuspid regurgitation; tricuspid valve regurgitation","cornea, curved phenotype","cardiovascular system calcification","maxillary prominence morphology phenotype","Eumetazoa","aortic regurgitation; aortic valve regurgitation","dilated blood vessel","philtrum morphology phenotype","decreased size of the mouth","decreased size of the subdivision of digestive tract","decreased width of the mouth","Narrow mouth","decreased size of the subdivision of tube","decreased width of the organ part","artery morphology phenotype","Abnormality of the gastrointestinal tract","gastrointestinal sphincter physiology phenotype","neurocranium bone","Generalized lipodystrophy","external naris","tricuspid valve","Abnormal zygomatic bone morphology","zygomatic arch hypoplasia","jugal bone morphology phenotype","lateral structure","cranial bone","anatomical entity morphology in the pectoral complex phenotype","zygomatic arch phenotype","Malar flattening","anterior uvea","anatomical cavity phenotype","head bone morphology phenotype","zygomatic arch","regional part of brain","skeletal element of eye region","mandible morphology phenotype","Abnormality of the face","dentary","blood circulation phenotype","Abnormal mandible morphology","bone of pelvic complex morphology phenotype","localised multicellular anatomical structure","transparent eye structure","bone of lower jaw phenotype","limb bone morphology phenotype","Retrognathia","lamellar bone","dense regular connective tissue","regular connective tissue phenotype","Joint contracture","decreased length of dense regular connective tissue","muscle organ phenotype","increased number of anatomical entity","increased width of anatomical structure","decreased length of connective tissue","thoracic segment organ","Abnormal skeletal muscle morphology","decreased length of regular connective tissue","absent nervous system process","decreased length of dense connective tissue","Aplasia/Hypoplasia involving bones of the skull","muscle structure","muscle organ morphology phenotype","cartilage tissue morphology phenotype","external ear morphology phenotype","decreased size of the tissue","decreased muscle organ strength","tendon phenotype","Abnormal tendon morphology","Abnormality of the calcaneus","cardiogenic splanchnic mesoderm morphology phenotype","increased number of ventricle of nervous system in the cerebrospinal fluid","decreased length of tendon","aortic valve","Hypertension","Deeply set eye","limb long bone","flat longitudinal arch of pes","increased curvature anatomical entity","longitudinal arch of pes, curved phenotype","subdivision of skeletal system, increased curvature phenotype","increased number of anatomical structure in the cerebrospinal fluid","regional part of nervous system","shape of philtrum phenotype","lung vasculature","digitopodium bone phenotype","glandular system","multicellular anatomical structure, curved phenotype","decreased biological_process in multicellular organism","brain ventricle/choroid plexus phenotype","increased number of brain ventricle","brain morphology phenotype","endocrine gland morphology phenotype","incomplete closing of the anatomical conduit","Abnormal 5th metacarpal morphology","number of anatomical enitites of type anatomical entity phenotype","forebrain phenotype","Visual impairment","central nervous system","ocular fundus","multicellular organism phenotype","telencephalon","constricted atrioventricular valve","ecto-epithelium","autopodial skeleton","circular anatomical entity","number of anatomical enitites of type organ part phenotype","Abnormal cerebral ventricle morphology","Abnormal nostril morphology","haemolymphatic fluid phenotype","behavior","increased number of organ component layer in the cerebrospinal fluid","lower lip phenotype","vertebral element phenotype","number of anatomical enitites of type organ component layer phenotype","Abnormal systemic blood pressure","neural tube phenotype","increased number of brain ventricle/choroid plexus in the cerebrospinal fluid","femur endochondral element phenotype","increased number of anatomical structure","increased number of organ part in the cerebrospinal fluid","zeugopodial skeleton","ventricle of nervous system","increased number of anatomical entity in the blood","brain","multicellular organism development phenotype","increased number of material anatomical entity in the cerebrospinal fluid","ventricle of nervous system phenotype","sloped downward palpebral fissure","increased width of subdivision of skeletal system","cranial suture","Abnormality of the nervous system","forebrain","central nervous system morphology phenotype","blood phenotype","absent tissue in the multicellular organism","regional part of brain phenotype","Abnormal cerebrospinal fluid morphology","decreased thickness of the upper lip","Flexion contracture of toe","brain phenotype","bodily fluid phenotype","premature reproductive process","shape of sternum phenotype","aneurysm","nervous system physiology phenotype","presomitic mesoderm phenotype","Abnormality of mental function","Abnormal nervous system physiology","cognition","Neurodevelopmental abnormality","myopia","cerebrospinal fluid phenotype","great vessel of heart morphology phenotype","increased size of the endoderm-derived structure","incomplete closing of the artery","nervous system process","incomplete closing of the systemic artery","decreased muscle structure mass","systemic artery morphology phenotype","great vessel of heart phenotype","incomplete closing of the thoracic segment blood vessel","increased size of the nose","thoracic segment blood vessel","systemic artery","bone structure","decreased number of irregular connective tissue in the multicellular organism","bony vertebral centrum","bone maturation","heart blood vessel","decreased length of metacarpal bone","localised material anatomical entity","Congenital malformation of the great arteries","vasculature of trunk phenotype","incomplete closing of the blood vessel","Patent ductus arteriosus","decreased length of palmar/plantar part of autopod","coronary vessel","heart vasculature","coronary vessel morphology phenotype","Abnormal pulmonary artery morphology","Abnormal morphology of the great vessels","autopod region phenotype","artery phenotype","increased size of the great vessel of heart","incomplete closing of the trunk blood vessel","organism subdivision phenotype","Abnormal eyelash morphology","Abnormal vascular morphology","developmental and structural abnormality","pelvic region element phenotype","dense connective tissue","Abnormal blood vessel morphology","Hypotonia","incomplete closing of the coronary vessel","Abnormal elasticity of skin","musculoskeletal system","systemic artery phenotype","radio-ulna phenotype","abdominal segment element phenotype","embryonic cardiovascular system","vasculature of trunk","alimentary part of gastrointestinal system phenotype","food storage organ phenotype","digestive system element physiology phenotype","gastrointestinal sphincter phenotype","subdivision of digestive tract physiology phenotype","future nervous system","sphincter muscle physiology phenotype","decreased number of anatomical structure","upper digestive tract","Pediatric onset","sphincter muscle","muscle structure physiology phenotype","developing anatomical structure","decreased height of the multicellular organism","decreased material anatomical entity mass","food storage organ","esophagus","stomach","sphincter muscle phenotype","aplasia or hypoplasia of skull","Gastroesophageal reflux","blood island phenotype","gastroesophageal reflux","germ layer morphology phenotype","decreased size of the autopodial extension","Brachydactyly","decreased length of organism subdivision","pedal digitopodium region","decreased length of digit","central nervous system phenotype","Muscle weakness","convex 3-D shape anatomical entity","decreased biological_process in skeleton","increased size of the subdivision of organism along main body axis","abdominal viscera phenotype","Increased head circumference","tibiofibula phenotype","growth","Long philtrum","phalanx endochondral element phenotype","mesoderm-derived structure phenotype","chemosensory system phenotype","ala of nose","forelimb long bone","surface groove phenotype","olfactory system","bending of organism subdivision","ala of nose phenotype","external naris phenotype","hindlimb zeugopod","multi-limb segment region","mandible phenotype","Abnormal morphology of the nasal alae","interventricular septum morphology phenotype","Micrognathia","metatarsal bone","cardiac septum morphology phenotype","embryonic structure","incomplete closing of the cardiac septum","septum phenotype","gastroesophageal sphincter physiology phenotype","Decreased anatomical entity mass","Abnormal cardiac ventricle morphology","opaque anatomical entity","palpebral fissure phenotype","Downslanted palpebral fissures","ectoderm morphology phenotype","shape of palpebral fissure phenotype","decreased multicellular organism development","Abnormality of the elbow","decreased qualitatively multicellular organism development","axial skeleton plus cranial skeleton","delayed growth","compact bone tissue","cardiogenic splanchnic mesoderm","embryo development rate phenotype","Abnormal cardiovascular system physiology","anatomical structure development phenotype","paired limb/fin skeleton phenotype","decreased embryo development","delayed biological_process","Growth delay","long bone phenotype","increased size of the organ","acetabular part of hip bone phenotype","Aplasia/Hypoplasia of the lens","endo-epithelium phenotype","developmental process rate phenotype","decreased size of the organ system subdivision","increased size of the gland","decreased height of the anatomical entity","organ part physiology phenotype","exocrine gland morphology phenotype","Abnormality of the abdominal organs","Abnormal nasal morphology","endocrine gland","blood vessel","increased size of the digestive system element","increased size of the viscus","hepatobiliary system morphology phenotype","Abnormality of the liver","increased size of the digestive system gland","size of liver phenotype","endocrine system morphology phenotype","pathological anatomical entity","Motor delay","increased size of the multi-tissue structure","pelvic appendage","High palate","organ mass phenotype","shape of longitudinal arch of pes phenotype","increased height of the multi-tissue structure","Aplasia/Hypoplasia of the mandible","aplasia or hypoplasia of mandible","Aplasia/hypoplasia affecting bones of the axial skeleton","location of anatomical entity phenotype","mandible hypoplasia","hindlimb skeleton","increased length of the anatomical line between pupils","Abdominal wall defect","increased size of the non-material anatomical boundary","increased length of the anatomical line","Mode of inheritance","musculoskeletal system phenotype","Mendelian inheritance","decreased anatomical entity tone","muscle tone","taxon specific phenotype","cartilage tissue","fibrocartilage morphology phenotype","mitral valve calcification","tissue calcification","cell and tissue damage process","structure with developmental contribution from neural crest calcification","atrioventricular valve calcification","material anatomical entity calcification","anatomical structure calcification","epiphysis phenotype","longitudinal arch of pes","jugal bone phenotype","neural crest-derived structure calcification","decreased width of the material anatomical entity","curved anatomical entity","anatomical system calcification","cartilage tissue calcification","connective tissue calcification","flat bone phenotype","trunk connective tissue","hindlimb zeugopod bone","Tricuspid regurgitation","fibrocartilage phenotype","cartilage tissue phenotype","Localized skin lesion","cranial suture phenotype","Incisional hernia","increased size of the subdivision of skeletal system","anatomical cavity","pulmonary artery morphology phenotype","pulmonary artery phenotype","Arthritis","pelvic girdle bone/zone morphology phenotype","synovial joint phenotype","foregut morphology phenotype","girdle bone/zone","manual digit 5 plus metapodial segment","synovial joint of pelvic girdle","malformed material anatomical entity","decreased size of the material anatomical entity in the pectoral complex","synovial joint of pelvic girdle morphology phenotype","innominate bone","abdominal segment bone","synovial joint","pelvic girdle bone/zone","chemosensory system","acetabular part of hip bone morphology phenotype","pelvic girdle bone/zone phenotype","increased size of the anatomical projection","decreased anatomical structure development","body wall morphology phenotype","ilium morphology phenotype","appendage girdle region","trunk mesenchyme","hip","Microspherophakia","Abnormality of lower limb joint","short bone phenotype","trunk bone phenotype","zone of bone organ phenotype","abdominal segment bone phenotype","circulatory organ phenotype","girdle skeleton","joint of girdle morphology phenotype","radius-ulna endochondral element phenotype","Protrusio acetabuli","anatomical entity physiology phenotype","aorta","split aorta","Abnormal systemic arterial morphology","rib morphology phenotype","shape of aorta phenotype","aorta morphology phenotype","arterial system","decreased qualitatively visual perception","Aortic dissection","face phenotype","Abnormal aortic morphology","ectoderm phenotype","thoracic aorta","Functional abnormality of the gastrointestinal tract","Abnormal ascending aorta morphology","decreased anatomical structure mass","Abnormality of the vertebral column","central canal of spinal cord","dorsum","Spinal canal stenosis","digestive system gland","knee","knee physiology phenotype","Genu recurvatum","bone tissue","compact bone tissue thickness phenotype","Hoarse voice","Thin bony cortex","decreased size of the skeletal tissue","outflow part of right atrium","Abnormal bone structure","decreased length of manual digitopodium bone","decreased thickness of the compact bone tissue","circulatory disorder","Proportionate short stature","Vascular dilatation","increased size of the vessel","Aortic aneurysm","outflow tract of ventricle","increased size of the aorta","Ascending tubular aorta aneurysm","vertebra phenotype","increased length of the non-material anatomical boundary","ovate anatomical entity","vertebra morphology phenotype","vertebral element","dense irregular connective tissue","Ovoid vertebral bodies","Abnormal vertebral morphology","presumptive paraxial mesoderm phenotype","3-D shape anatomical entity","bony vertebral centrum morphology phenotype","lung","material anatomical entity physiology phenotype","adipose tissue","increased number of brain ventricle/choroid plexus","neural plate","subcutaneous adipose tissue","skeleton of pedal digitopodium","Decreased adipose tissue","decreased qualitatively developmental process","Abnormality of subcutaneous fat tissue","neural tube","irregular connective tissue phenotype","irregular connective tissue","Abnormality of mouth size","Reduced subcutaneous adipose tissue","postcranial axial skeleton 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