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behavior","Unusual infection","Recurrent ear infections","motor delay; motor developmental delay","Non-convulsive status epilepticus without coma","Status epilepticus","multicellular organism development","Abnormal cortical gyration","Abnormal cerebral cortex morphology","system development","cell differentiation","cell migration phenotype","neuron migration phenotype","Abnormality of neuronal migration","generation of neurons","cerebral cortex morphology phenotype","Focal polymicrogyria","Hyperintensity of cerebral white matter on MRI","digestion","Chronic constipation","digestive system process","defecation","digestive system process phenotype","chronic constipation","excretion phenotype","decreased digestive system process","Constipation","Abnormal cerebral vascular morphology","Dilation of Virchow-Robin spaces","Edema","regulation of body fluid levels","Abnormality of fluid regulation","regulation of biological quality phenotype","edema","Abnormality of the neck","neck","Fetal neck anomaly","biological regulation phenotype","Abnormal fetal morphology","tapered pedal digit","Abnormality of the lower limb","vasculature","circulatory system phenotype","cardiovascular system phenotype","vessel phenotype","vascular system morphology phenotype","Abnormality of the cardiovascular system","Generalized abnormality of skin","blood vessel","vascular system","skin vasculature morphology; vascular skin abnormality","cardiovascular system morphology phenotype","Short attention span","cognition","kinesthetic behavior","cognitive behavior","locomotion","attention behavior","locomotion phenotype","increased behavior","increased multicellular organismal process","Hyperactivity","Attention deficit hyperactivity disorder","increased kinesthetic behavior","increased locomotion","Lateral ventricle dilatation","Abnormal lateral ventricle morphology","increased size of the telencephalic ventricle","telencephalic ventricle morphology phenotype","telencephalic ventricle","dilated telencephalic ventricle","Abdominal symptom","dysgenesis of the axon tract","dysgenesis of the brain commissure","dysgenesis of the intercerebral commissure","dysgenesis of the dorsal telencephalic commissure","dysgenesis of the multi cell part structure","decreased excretion","Bilateral cryptorchidism","dilated third ventricle","brain ventricle","increased size of the brain ventricle/choroid plexus","increased size of the organ component layer","third ventricle morphology phenotype","third ventricle","size of brain ventricle phenotype","Abnormal cerebral ventricle morphology","increased size of the organ part","diencephalon","Ventriculomegaly","dilated brain ventricle","brain ventricle/choroid plexus phenotype","organ component layer","increased size of the ventricle of nervous system","pathological anatomical entity","developmental or adult structural  defect","Central nervous system cyst","anatomical entity degeneration in central nervous system","central nervous system cell part cluster degeneration","Leukoencephalopathy","anatomical entity degeneration","brain white matter degeneration","excretion","Abnormal periventricular white matter morphology","Intracranial cystic lesion","cerebral hemisphere white matter degeneration","pathological phenotype observation","pathological entity","anatomical structure degeneration","white matter of telencephalon degeneration","white matter degeneration","increased size of the dorsal telencephalic commissure","white matter of telencephalon","commissure of telencephalon","corpus callosum morphology phenotype","increased thickness of the material anatomical entity","cerebral hemisphere white matter phenotype","brain commissure morphology phenotype","increased size of the central nervous system cell part cluster","increased thickness of the nervous system commissure","dorsal telencephalic commissure morphology phenotype","increased size of the multi cell part structure","white matter of forebrain phenotype","intercerebral commissure phenotype","Thick corpus callosum","increased thickness of the axon tract","increased thickness of the multi cell part structure","Abnormal cerebral white matter morphology","axon tract phenotype","increased thickness of the corpus callosum","Abnormal cerebral subcortex morphology","increased thickness of the brain commissure","increased thickness of the central nervous system cell part cluster","brain white matter morphology phenotype","corpus callosum","increased size of the brain commissure","brain white matter","nervous system commissure","tract of brain","increased thickness of the tract of brain","Abnormal corpus callosum morphology","cerebral hemisphere white matter","dorsal telencephalic commissure","nervous system commissure phenotype","commissure of telencephalon phenotype","increased size of the commissure of telencephalon","brain commissure phenotype","brain commissure","increased thickness of the anatomical structure","Abnormal cardiovascular system morphology","neck phenotype","digit 5 plus metapodial segment","Abnormal 5th finger morphology","deviation of manual digit towards the middle","deviation of anatomical entity","deviation of manual digit 5","digit 1 or 5","Clinodactyly","spatial pattern of anatomical entity phenotype","Finger clinodactyly","manual digit 1 or 5","manual digit 5 plus metapodial segment","polyatomic entity","Abnormal circulating dicarboxylic acid concentration","increased level of chemical entity","increased bodily fluid acid level","white matter","tetrapyrrole","dicarboxylic acid","carboxylic acid","dicarboxylic acids and O-substituted derivatives","heteroarene","s-block molecular entity","oxoacid","nitrogen molecular entity","organic oxo compound","aromatic compound","organic cyclic compound","increased level of bilirubin IXalpha in blood","increased bodily fluid role level","increased level of nitrogen molecular entity in blood","increased blood role level","dysgenesis of the nervous system commissure","Abnormal circulating carboxylic acid concentration","hydrogen molecular entity","pnictogen molecular entity","cyclic compound","increased level of chemical entity in bodily fluid","Motor delay","tract of brain phenotype","increased level of chemical entity in blood","organic acid","organonitrogen compound","organic heterocyclic compound","organic aromatic compound","Abnormal circulating bilirubin concentration","alimentary part of gastrointestinal system morphology phenotype","Abnormal gastrointestinal tract morphology","Abnormal digestive system morphology","small intestine","intestine","intestine morphology phenotype","Abnormality of the vasculature","Celiac disease","alimentary part of gastrointestinal system phenotype","regional part of brain calcification","forebrain morphology phenotype","Cerebral calcification","Abnormal forebrain morphology","ectoderm-derived structure calcification","material anatomical entity calcification","telencephalon morphology phenotype","Ectopic calcification","Abnormal cerebral morphology","Intracranial calcification","regulation of biological quality","Seizure","development of anatomical entity phenotype","sorocarp development","Dysplastic corpus callosum","biological process involved in intraspecies interaction between organisms","delayed sorocarp development","delayed anatomical structure development","sorocarp development phenotype","socially cooperative development phenotype","anatomical structure development phenotype","biological process involved in intraspecies interaction between organisms phenotype","anatomical line","increased length of the anatomical line","Feeding difficulties","Hypertelorism","non-material anatomical boundary","increased length of the anatomical line between pupils","cell migration","Delayed speech and language development","Neurodevelopmental abnormality","Abnormal cognitive process","Absent speech","Neurodevelopmental delay","Abnormal language feature","Abnormal speech pattern","brain ventricle morphology phenotype","Abnormal communication","speech pattern; vocalization","increased height of the multi-tissue structure","size of corpus callosum phenotype","High palate","increased size of the multi-tissue structure","secondary palate morphology phenotype","roof of mouth","blood vessel phenotype","increased height of the secondary palate","Abnormal palate morphology","roof of mouth morphology phenotype","reproductive system","Abnormal testis morphology","male reproductive organ","Abnormality of the genitourinary system","increased level of dicarboxylic acid in blood","small intestine phenotype","male reproductive organ morphology phenotype","external genitalia morphology; external genitalia phenotype","dysgenesis of the tract of brain","male reproductive system morphology phenotype","Abnormal male external genitalia morphology","testis phenotype","genitourinary system","reproductive structure","localised gonad","Abnormal reproductive system morphology","reproductive system phenotype","Abnormality of the male genitalia","male organism phenotype","external male genitalia phenotype","Abnormal external genitalia morphology","localised reproductive organ","male reproductive system phenotype","male organism","male reproductive organ phenotype","sloped downward anatomical entity","white matter phenotype","shape of palpebral fissure phenotype","Downslanted palpebral fissures","deviation of manual digit 5 towards the middle","sloped anatomical entity","ventricle of nervous system phenotype","increased length of the non-material anatomical boundary","sloped downward palpebral fissure","Hearing impairment","biological_process in peripheral nervous system phenotype","decreased qualitatively sensory perception of mechanical stimulus","decreased qualitatively sensory perception","Cognitive impairment","Sensorineural hearing impairment","sensory perception of sound phenotype","sensory perception phenotype","nervous system process","sensory perception","neuron projection bundle phenotype","sensory perception of sound","peripheral nervous system phenotype","ventricle of nervous system","decreased nervous system process","Tapered toe","decreased biological_process in multicellular organism","nervous system process phenotype","decreased sensory perception of mechanical stimulus","deviation of digit towards the middle","external genitalia","sensory perception of mechanical stimulus","decreased biological_process in nerve","internal ear physiology phenotype","decreased sensory perception of sound in nerve","neck morphology phenotype","decreased qualitatively system process","internal ear phenotype","decreased sensory perception of sound","ear physiology phenotype","Hearing abnormality","sensory perception of mechanical stimulus phenotype","cranium","Abnormality of upper lip vermillion","decreased thickness of the lip","upper lip","Abnormal upper lip morphology","anatomical space phenotype","non-material anatomical boundary phenotype","anatomical entity thickness phenotype","vessel","anatomical cavity phenotype","localised reproductive structure","decreased size of the lip","ventricular system of central nervous system","decreased size of the anatomical entity","upper jaw region","decreased size of the material anatomical entity","decreased size of the anatomical structure","oral cavity morphology phenotype","oral cavity phenotype","lip","decreased thickness of the anatomical entity","lip morphology phenotype","upper lip phenotype","decreased thickness of the upper lip","decreased multicellular organismal process","social behavior","decreased behavior","social inhibition","decreased biological_process","Recurrent maladaptive behavior","Abnormal affect","decreased qualitatively behavior","Disinhibition","subdivision of tube","facial skeleton phenotype","Abnormal facial skeleton morphology","increased size of the third ventricle","Retrognathia","primary subdivision of skull phenotype","epithelial fold phenotype","facial skeleton","bone of lower jaw","dentary phenotype","pharyngeal arch 1 phenotype","epithelial fold","head bone morphology phenotype","subdivision of digestive tract phenotype","localised anatomical structure","dermal bone phenotype","subdivision of digestive tract","skeleton of lower jaw","multicellular anatomical structure calcification","neural crest-derived structure phenotype","protuberance","digestive system element","digestive system morphology phenotype","pharyngeal arch phenotype","dermal bone","bone of craniocervical region","increased thickness of the neuron projection bundle","intramembranous bone","increased size of the intercerebral commissure","membrane bone","mouth phenotype","zone of skin morphology phenotype","acropodium region","digitopodium region","tube","limb bud morphology phenotype","migrating mesenchyme population","pedal digit phenotype","nail of pedal digit","posterior region of body","autopodial extension","aplasia or hypoplasia of eyebrow","face morphology phenotype","ecto-epithelium phenotype","hindlimb phenotype","ectodermal placode","nail of pedal digit phenotype","disconnected anatomical group","decreased number of cutaneous appendage","ventricular system of brain","hindlimb bud morphology phenotype","rhombic lip morphology phenotype","chordal neural plate","Abnormal toenail morphology","autopod region morphology phenotype","Functional abnormality of the inner ear","autopod skin","blood chemical entity level phenotype","increased size of the external ear","hindlimb","embryonic autopod plate","vasculature phenotype","central nervous system gray matter layer","autopod region phenotype","pes","skin epidermis phenotype","decreased number of integumentary adnexa","appendage girdle complex","regulation of body fluid levels phenotype","dorsal skin of digit","Small nail","hindlimb skin","digit skin","increased size of the material anatomical entity","increased size of the multicellular anatomical structure","multi cell part structure phenotype","chalcogen molecular entity","forehead phenotype","Absent facial hair","size of forehead phenotype","shape of pedal digit phenotype","material anatomical entity mass phenotype","Abnormality of the head","pedal digit","postcranial axial skeleton","multicellular anatomical structure mass phenotype","increased anatomical entity mass","trunk","bone element phenotype","digit phenotype","mandible phenotype","Increased nuchal translucency","Abnormal mandible morphology","vestibulo-auditory system","dysgenesis of the neuron projection bundle","biladienes","electrically signaling cell","ectoderm-derived structure phenotype","manual digit 5","organ subunit phenotype","integumental system","epithelial vesicle","digit morphology phenotype","neural fold","increased biological_process","neuron migration","reproductive structure phenotype","fused anatomical entity and rib","white matter of telencephalon phenotype","presomitic mesoderm morphology phenotype","Bulbous nose","fused rib and rib","camera-type eye phenotype","Abnormal thorax morphology","thoracic skeleton","system process","orifice phenotype","incomplete closing of the abdominal wall","thoracic rib cage","Polyhydramnios","scalp","blood carbohydrate level phenotype","postcranial axial skeletal system","bone of jaw","integumentary adnexa","skeletal element","increased size of the neuron projection bundle","musculature phenotype","brain white matter phenotype","musculature of body phenotype","developing mesenchymal condensation","facial bone","nail morphology phenotype","Deviation of finger","Abnormal hair morphology","neurogenic placode","bone element","subdivision of organism along appendicular axis","pelvic appendage bud phenotype","axial skeleton plus cranial skeleton","decreased number of anatomical projection","migrating mesenchyme population phenotype","growth phenotype","size of skull phenotype","paired limb/fin phenotype","anatomical entity dysfunction in independent continuant","Abnormality of the genital system","Abnormality of the musculoskeletal system","manus morphology phenotype","cell condensation phenotype","skull","brain ventricle/choroid plexus","location of eyeball of camera-type eye phenotype","trunk mesenchyme phenotype","head","Aplastic/hypoplastic toenail","rib morphology phenotype","testis","paired limb/fin bud phenotype","Abnormality of the gastrointestinal tract","skeletal system phenotype","blastula","developing mesenchymal condensation phenotype","anatomical collection","chest phenotype","hindlimb bud phenotype","integumentary projection","anatomical structure mass phenotype","process","multicellular anatomical structure","cerebellar cortex morphology phenotype","decreased rate of behavior process","skeleton phenotype","Vascular skin abnormality","dysgenesis of the anatomical entity","cell","presomitic mesoderm","anatomical cluster","subdivision of head phenotype","Abnormal central motor function","paired limb/fin segment","developmental and structural abnormality","skeletal element phenotype","presumptive structure phenotype","Absent eyebrow","biological_process","collection of hair on face","increased length of the manual digit","absent collection of hairs","collection of hairs","number of anatomical enitites of type collection of hairs phenotype","Abnormal hair quantity","incomplete closing of the organ part","Abnormal hand morphology","absent cutaneous appendage","collection of hairs on head or neck","fused anatomical entity and anatomical entity","absent eyebrow","Abnormal vascular morphology","pelvic region element phenotype","absent collection of hair on face","forehead","integumentary adnexa phenotype","digit 5","eyelid","neural tube morphology phenotype","organ component layer phenotype","eye primordium","multi-limb segment region phenotype","external integument structure","distal segment of pedal digit","structure with developmental contribution from neural crest phenotype","absent multicellular anatomical structure in the multicellular organism","Polymicrogyria","absent anatomical entity in the skin epidermis","skin epidermis","axon tract","delayed biological_process","distal limb integumentary appendage phenotype","mesenchyme morphology phenotype","shape of continuant phenotype","visual system","increased size of the brain ventricle","brain morphology phenotype","forehead morphology phenotype","multi organ part structure phenotype","presumptive ectoderm phenotype","decreased functionality of the anatomical structure","Abnormal ocular adnexa morphology","Deviation of the hand or of fingers of the hand","limb endochondral element","subdivision of tube phenotype","intestine phenotype","pre-chordal neural plate","Large forehead","protruding anatomical entity","increased qualitatively locomotion","Abnormal eyelid morphology","integument phenotype","Abnormal circulating organic compound concentration","nail","location of digestive system element phenotype","organism subdivision phenotype","body proper","deviation of anatomical entity towards the middle","Thin upper lip vermilion","external ear phenotype","craniocervical region","increased multicellular organism mass","cutaneous appendage","Sparse hair","dysgenesis of the corpus callosum","optic vesicle","neural crest morphology phenotype","Aplasia/Hypoplasia of the nails","continuant","integument","hypertonia; hypertonicity","eyelash phenotype","limb segment phenotype","outer epithelium phenotype","lateral plate mesoderm","craniocervical region phenotype","frontal cortex","absent hair of head","cell condensation","organonitrogen heterocyclic compound","midface phenotype","fused rib and anatomical entity","pelvic region element","external genitalia phenotype","paraxial mesoderm phenotype","Abnormality of the orbital region","sensory system phenotype","Abnormality of body weight","pelvic complex","eyelash morphology phenotype","skin of limb","vertebral column morphology phenotype","camera-type eye morphology phenotype","sense organ","anatomical system phenotype","lower jaw region","limb bud","multicellular organism phenotype","cheek phenotype","subdivision of head","decreased size of the surface structure","All","Abnormal circulating carbohydrate concentration","segment of autopod","Abnormal blood glucose concentration","polypyrrole","absent anatomical structure in the tissue","germ layer phenotype","embryonic structure phenotype","blood","hindbrain","blood vessel morphology phenotype","regional part of nervous system phenotype","strand of hair","anatomical cluster phenotype","absent anatomical structure in the multicellular organism","dysgenesis of the anatomical structure","immature eye","axon tract morphology phenotype","independent continuant","mesenchyme","digestive tract","brain","cell motility phenotype","upper lip morphology phenotype","chest morphology phenotype","segmental subdivision of hindbrain phenotype","Abnormality of connective tissue","tissue","absent material anatomical entity","dysgenesis of the regional part of brain","membrane bone phenotype","absent anatomical entity in the multicellular organism","embryonic tissue morphology phenotype","cerebellar vermis phenotype","biological_process in nervous system phenotype","subdivision of skeletal system","Dysgenesis of the cerebellar vermis","heteroatomic molecular entity","decreased muscle organ tone","absent morphological feature","skeleton","dense mesenchyme tissue phenotype","presumptive ectoderm","organic molecule","root","number of anatomical enitites of type integumentary projection phenotype","future metencephalon","absent multicellular anatomical structure in the head","multicellular organismal process phenotype","anatomical structure phenotype","non-connected functional system","multicellular organism morphology phenotype","digestive system phenotype","localised multicellular anatomical structure","Increased body weight","Abnormal nervous system physiology","absent integumentary adnexa","Abnormal cerebellum morphology","skin of body","anatomical system","organ part phenotype","material anatomical entity phenotype","multi-tissue structure calcification","ectoderm phenotype","subdivision of trunk","localised male reproductive organ","Abnormal forehead morphology","anatomical conduit phenotype","homeostasis","increased thickness of the dorsal telencephalic commissure","skeletal system","brain ventricle phenotype","mesoderm morphology phenotype","musculature","craniocervical region morphology phenotype","Aggressive behavior","central nervous system cell part cluster phenotype","ecto-epithelium","biological regulation","trunk phenotype","anatomical collection phenotype","telencephalon calcification","role bodily fluid level phenotype","multi-tissue structure","nail of pedal digit morphology phenotype","anatomical conduit","dysgenesis of the cerebellar vermis","chest","material entity","number of anatomical enitites of type strand of hair phenotype","pedal digit morphology phenotype","Abnormal homeostasis","haemolymphatic fluid","incomplete closing of the anatomical wall","paired limb/fin skeleton","diencephalon phenotype","dysgenesis of the material anatomical entity","external ectoderm morphology phenotype","increased size of the sense organ","metencephalon","Abnormality of head or neck","regional part of cerebellar cortex phenotype","hindbrain phenotype","external ear morphology phenotype","Abnormality of the mouth","endochondral bone phenotype","autopod region","material anatomical entity","gray matter of hindbrain","axial skeleton plus cranial skeleton phenotype","neural plate phenotype","dilated anatomical entity","Abnormality of the ocular adnexa","immaterial anatomical entity","presumptive paraxial mesoderm","epithelium phenotype","sacral region of vertebral column","central nervous system gray matter layer phenotype","frontal lobe","Abnormal neck morphology","dysgenesis of the multicellular anatomical structure","postcranial axial skeleton phenotype","entity","immaterial anatomical entity phenotype","Abnormal skeletal morphology","external soft tissue zone phenotype","primordium phenotype","metabolic process","Sparse eyebrow","dorsal skin of toe","internal ear","lateral structure physiology phenotype","third ventricle phenotype","multi cell part structure","phenotypic effect","jaw region","developing anatomical structure","Abnormality of the respiratory system","Opisthokonta","number of anatomical enitites of type morphological feature phenotype","increased size of the organism subdivision","increased thickness of the anatomical entity","Morphological central nervous system abnormality","presumptive structure","biological_process phenotype","diencephalon morphology phenotype","trunk bone","subdivision of skeleton","anatomical entity phenotype","segmental subdivision of nervous system phenotype","limb segment","paired limb/fin","gross anatomical part","anatomical entity mass phenotype","embryonic tissue","increased height of the multicellular anatomical structure","regional part of brain","multi-tissue structure phenotype","number of anatomical enitites of type anatomical collection phenotype","blood dicarboxylic acid level phenotype","Deeply set eye","Preauricular skin tag","central nervous system cell part cluster","decreased number of material anatomical entity","Abnormal axial skeleton morphology","sclerotome phenotype","brain phenotype","external nose morphology phenotype","appendage","ectoderm","Macrocephaly at birth","mandible morphology phenotype","animal gross anatomical part developmental process","absent organ part","gastrula morphology phenotype","haemolymphatic fluid phenotype","cheek morphology phenotype","cerebellum phenotype","digestive system element phenotype","irregular bone","increased response to stimulus","Abnormality of globe location","reproductive organ","absent anatomical entity in the tissue","decreased defecation","sclerotome morphology phenotype","metencephalon morphology phenotype","decreased number of organ part","face","Abnormal rib cage morphology","cortex of cerebral lobe","Phenotypic abnormality","hair of head phenotype","optic cup morphology phenotype","external soft tissue zone","multicellular anatomical structure phenotype","organ part","embryonic structure","integumentary adnexa morphology phenotype","strand of hair of face","vasculature morphology in the brain phenotype","Hypoglycemia","increased length of the material anatomical entity","anatomical structure","distal segment of digit","phenotype","absent anatomical collection","Rib fusion","segmental subdivision of nervous system","absent organ part in the head","muscle structure","Abnormality of the digestive system","central nervous system","paraxial mesoderm morphology phenotype","integumentary projection phenotype","dysgenesis of the regional part of cerebellar cortex","cardiovascular system","Abnormal brain morphology","pharyngeal region of foregut","eyelid morphology phenotype","orbital region phenotype","Abnormality of the upper limb","primary subdivision of cranial skeletal system","regional part of cerebellar cortex","sparse hair","embryonic autopod plate morphology phenotype","manus","somite phenotype","subdivision of skeleton phenotype","neuroectoderm","neural fold phenotype","constipation","tissue phenotype","segmental subdivision of hindbrain","midface","thoracic rib cage morphology phenotype","rib","olfactory placode","sense organ physiology phenotype","surface structure","central nervous system phenotype","behavior process","tissue chemical entity level phenotype","absent material anatomical entity in the face","pectoral appendage bud","cerebellar vermis morphology phenotype","gray matter","paired limb/fin bud","neural plate","absent multicellular anatomical structure in the skin epidermis","axial skeleton plus cranial skeleton morphology phenotype","sensory system","germ layer morphology phenotype","anatomical entity morphology in the pelvic complex phenotype","Appendicular spasticity","brain gray matter phenotype","nail of pedal digit hypoplasia","subdivision of trunk phenotype","reproductive organ phenotype","increased anatomical structure mass","bodily fluid","epithelium","sense organ phenotype","eye","eye phenotype","limb bone","rib skeletal system","head bone phenotype","decreased qualitatively nervous system process","presumptive paraxial mesoderm phenotype","eye primordium phenotype","cerebellum","embryo phenotype","decreased number of multicellular anatomical structure in the multicellular organism","mandible","absent anatomical entity","skin of body morphology phenotype","zone of organ phenotype","Large for gestational age","male reproductive system","thoracic segment of trunk","leg","Global developmental delay","metencephalon phenotype","mesoderm-derived structure","neuron dysfunction in primary motor cortex","pedal digitopodium region","posterior neural tube","periauricular region morphology","nervous system","increased level of chemical entity in tissue","dorsum","Deviation of the 5th finger","musculoskeletal system","epithelial tube phenotype","cerebellum morphology phenotype","pilosebaceous unit morphology phenotype","lateral structure","cranial skeletal system phenotype","future central nervous system phenotype","blood vasculature","strand of hair of face phenotype","circulatory system","system process phenotype","hindbrain morphology phenotype","nervous system phenotype","Abnormality of the nervous system","cyst","hindlimb morphology phenotype","digit 1 or 5 phenotype","gonad phenotype","epithelial vesicle phenotype","taxon specific phenotype","decreased social inhibition","embryo morphology phenotype","germ layer / neural crest","simple eye","absent anatomical entity in the head","absent anatomical structure in the head","future central nervous system","embryo","decreased qualitatively biological_process","musculature of body","neural tube phenotype","increased size of the anatomical entity","hexose","lateral plate mesoderm morphology phenotype","cerebral subcortex","epithelial tube","testis morphology phenotype","organ phenotype","integumental system phenotype","tube phenotype","heteroorganic entity","Abnormality of the scalp hair","absent anatomical structure in the skin epidermis","endochondral element","Decreased fetal movement","Abnormally increased volition","regional part of brain phenotype","axial skeletal system","Abnormal oral cavity morphology","vertebral column","nerve phenotype","nervous system morphology phenotype","dysgenesis of the commissure of telencephalon","gray matter phenotype","multicellular organism","embryonic tissue phenotype","genitourinary system phenotype","pelvic appendage","Abnormality of the nose","absent multicellular anatomical structure","Absent hair","organism subdivision","chordal neural plate phenotype","Abnormality of the palpebral fissures","decreased functionality of the material anatomical entity","aplasia or hypoplasia of nail","anatomical entity height phenotype","primary motor cortex","immune system physiology phenotype","Eumetazoa","increased length of the immaterial anatomical entity","dysgenesis of the multi-tissue structure","cranial skeletal system","anatomical entity morphology phenotype","cutaneous appendage phenotype","skin epidermis morphology phenotype","scalp phenotype","bony pelvis","deviation of manual digit","appendicular skeleton","limb skeleton subdivision phenotype","localised bone element","primordium","localised material anatomical entity","skin of pes","limb phenotype","immune system process","somite","external nose phenotype","increased multicellular anatomical structure mass","carbohydrate","immature eye phenotype","Abnormality of the face","pallium","increased immune response","increased size of the lateral structure","Abnormal cerebellar vermis morphology","anatomical line between pupils","Prenatal movement abnormality","Abnormal nervous system morphology","anatomical entity","number of anatomical enitites of type cutaneous appendage phenotype","anterior neural tube phenotype","Metazoa","behavior phenotype","unilaminar epithelium","gyrus","Abnormal nail morphology","subdivision of organism along main body axis phenotype","rib endochondral element","Abnormal sacrum morphology","appendage phenotype","system","limb bone phenotype","anatomical structure development","Abnormality of the integument","zone of skin","dorsal region element phenotype","muscle organ","skin of body phenotype","Abnormal pinna morphology","opening of the anatomical entity","Abnormal eyelash morphology","abdominal segment bone phenotype","external integument structure phenotype","increased size of the corpus callosum","reproductive system morphology phenotype","Aplasia/Hypoplasia of the eyebrow","pelvic appendage phenotype","increased size of the subdivision of head","craniofacial/craniocervical phenotype","size of palpebral fissure phenotype","nerve","endochondral bone","distal limb integumentary appendage","bodily fluid phenotype","respiratory system","primary subdivision of cranial skeletal system phenotype","outer epithelium","mesoderm phenotype","absent collection of hairs on head or neck","cerebellar vermis","number of anatomical enitites of type anatomical entity phenotype","absent anatomical structure","hair of head","nose tip phenotype","aplasia or hypoplasia of anatomical entity","visual system phenotype","organ system subdivision","multi cell part structure degeneration","white matter of forebrain","foregut morphology phenotype","ectoderm-derived structure","increased rate of behavior process","Macrotia","head morphology phenotype","mandibular retrognathia; retrognathia","number of anatomical enitites of type anatomical structure phenotype","optic cup","absent strand of hair","bone of appendage girdle complex","number of anatomical enitites of type integumentary adnexa phenotype","nail hypoplasia","increased size of the nervous system commissure","increased material anatomical entity mass","increased size of the anatomical structure","ectoderm-derived structure physiology phenotype","Abnormal scalp morphology","central nervous system morphology phenotype","absent material anatomical entity in the head","structure with developmental contribution from neural crest","segment of pes","absent integumentary projection","linear tetrapyrrole","organ subunit","number of anatomical enitites of type organ part phenotype","Slanting of the palpebral fissure","Abnormal external nose morphology","manual digitopodium region","dysgenesis of the regional part of nervous system","cellular organisms","multi organ part structure","bone of craniocervical region phenotype","Abnormal hindbrain morphology","bilirubin IXalpha","Abnormality of the skeletal system","anatomical projection phenotype","absent organ part in the skin epidermis","unilaminar epithelium phenotype","bone of dorsum phenotype","pharyngeal arch morphology phenotype","ocular adnexa phenotype","decreased system process","pectoral complex","anatomical projection","main body axis","Language impairment","eyelash","socially cooperative development","organ system subdivision phenotype","skeleton of limb","Sparse or absent eyelashes","facial skeleton morphology phenotype","anatomical point phenotype","number of anatomical enitites of type material anatomical entity phenotype","bone of lower jaw phenotype","absent material anatomical entity in the multicellular organism","vertebral column phenotype","external ectoderm","gonad","fused sacrum phenotype","surface structure phenotype","pedal digit skin","nail phenotype","endochondral element phenotype","muscle hypertonia; spasticity","aggressive behavior","pre-chordal neural plate phenotype","increased height of the anatomical structure","Abnormal eyebrow morphology","future nervous system","increased length of the organism subdivision","decreased qualitatively multicellular organismal process","absent strand of hair of face","multicellular organismal process","absent eyelash","rhombic lip","optic vesicle phenotype","number of anatomical enitites of type anatomical projection phenotype","anatomical space","decreased number of anatomical entity in the multicellular organism","developmental process","multi-limb segment region","autopodial extension phenotype","paired limb/fin segment phenotype","forelimb morphology phenotype","pes morphology phenotype","anatomical entity hypoplasia","pharyngeal arch system","limb","pelvic appendage bud","Upper motor neuron dysfunction","neural cell","Abnormality of metabolism/homeostasis","entire sense organ system","pedal digit plus metapodial segment","digit","Sparse eyelashes","decreased sensory perception","coat of hair morphology phenotype","Abnormal respiratory system physiology","localised skeletal element","presomitic mesoderm phenotype","Abnormal skin morphology","increased size of the non-material anatomical boundary","Skin tags","defecation phenotype","cerebral hemisphere","midface morphology phenotype","cheek","orbital region","limb skeleton subdivision","oral cavity","Abnormal cheek morphology","subdivision of organism along appendicular axis phenotype","growth","Abnormality of the skin","Abnormal periauricular region morphology","temporofacial region","palpebral fissure phenotype","alimentary part of gastrointestinal system","dermal skeleton","increased width of anatomical entity","Blepharophimosis","hydroxides","cerebral hemisphere gray matter","Abnormal size of the palpebral fissures","hindlimb bud","palpebral fissure","localised testis","Abnormal ear physiology","Abnormal rib morphology","orifice","Ptosis","multicellular anatomical structure physiology phenotype","Abnormal third ventricle morphology","sclerotome","vision/eye phenotype","Abnormality of the outer ear","drooping anatomical entity","anterior region of body","shape of eyelid phenotype","drooping eyelid","digestive system physiology phenotype","eyeball of camera-type eye","neuron","Abnormal volitional state","increased width of subdivision of head","secondary palate","simple eye physiology phenotype","gastrula","Abnormality of the eye","organ physiology phenotype","increased width of material anatomical entity","material anatomical entity physiology phenotype","abdominal segment bone","shape of anatomical entity phenotype","anatomical structure physiology phenotype","Abnormal lip morphology","increased width of multicellular anatomical structure","cellular process phenotype","structure with developmental contribution from neural crest physiology phenotype","Keratosis pilaris","localised anatomical entity","Abnormal eye physiology","p-block molecular entity","Feeding difficulties in infancy","camera-type eye physiology phenotype","Bilateral ptosis","delayed developmental process","behavior process phenotype","nervous system cell part layer phenotype","absent material anatomical entity in the tissue","Spasticity","Reduced attention regulation","nervous system physiology phenotype","forebrain phenotype","blood carboxylic acid level phenotype","Abnormality of mental function","Abnormal oral morphology","localised organ","Abnormal intestine morphology","anatomical system physiology phenotype","preauricular skin tag","behavior","regional part of nervous system","Atypical behavior","increased size of the organ","skeletal system morphology phenotype","Hypotonia","muscle structure physiology phenotype","muscle tone","immune response","Abnormality of the musculature","occurrent","nose morphology phenotype","carbonyl compound","muscle organ physiology phenotype","emotional behavior","morphological feature","Neonatal hypotonia","Abnormal muscle physiology","anatomical cavity","Abnormal muscle tone","Sparse scalp hair","shape of external ear phenotype","Hyperbilirubinemia","amniotic fluid phenotype","immune system process phenotype","coat of hair","skull phenotype","anterior neural tube","Abnormal fetal physiology","absent anatomical entity in the face","Abnormal ear morphology","Abnormality of the ear","increased size of the immaterial anatomical entity","neurectoderm phenotype","ear","bone of appendage girdle complex phenotype","absent material anatomical entity in the skin epidermis","vestibulo-auditory system phenotype","Cupped ear","ear morphology phenotype","decreased number of anatomical structure in the multicellular organism","forebrain","gray matter of telencephalon","brain gray matter","decreased number of strand of hair","decreased number of morphological feature","blood glucose level phenotype","sacral region of vertebral column phenotype","neuron physiology phenotype","decreased number of multicellular anatomical structure","increased size of the ectoderm-derived structure","decreased number of material anatomical entity in the multicellular organism","cerebral cortex phenotype","increased size of the anatomical line","forelimb bud","lateral structure phenotype","forelimb","nitrogen molecular entity level phenotype","anatomical structure calcification","decreased number of anatomical structure","Poor speech","decreased number of integumentary projection","Delayed ability to walk","developmental process phenotype","herniated abdominal wall","Alopecia","increased immune system process","blood island phenotype","pharyngeal arch 1","organism substance","Sacral dimple","rib phenotype","polyhydramnios","neural tube","mesoderm","increased thickness of the commissure of telencephalon","chemical homeostasis phenotype","Abnormal glucose homeostasis","Abnormality of prenatal development or birth","carbohydrate homeostasis phenotype","decreased role blood level","decreased level of chemical entity in blood","Fetal anomaly","mesoderm-derived structure phenotype","organooxygen compound","manus phenotype","hematopoietic system phenotype","blood oxygen molecular entity level phenotype","lateral plate mesoderm phenotype","absent multicellular anatomical structure in the face","carbon group molecular entity","Abnormal toe morphology","multicellular organism chemical entity level phenotype","blood island","monosaccharide","Asthma","dermatocranium","limb bud phenotype","eyeball of camera-type eye phenotype","aldose","Abnormal circulating monosaccharide concentration","Cryptorchidism","blood organic molecular entity level phenotype","chemical entity level phenotype","absent anatomical projection","muscle organ phenotype","hypoglycemia","hematopoietic system","oxygen molecular entity","protuberance phenotype","decreased qualitatively digestive system process","organochalcogen compound","paired limb/fin skeleton phenotype","organic molecular entity","increased height of the organism subdivision","Abnormal circulating metabolite concentration","organism substance phenotype","decreased biological_process in peripheral nervous system","cranial placode phenotype","eyebrow morphology phenotype","cellular process","strand of hair phenotype","homeostatic process","Abnormal jaw morphology","carbohydrates and carbohydrate derivatives","homeostatic process phenotype","decreased qualitatively sensory perception of sound","glucose homeostasis phenotype","carbohydrate homeostasis","aldohexose","neural plate morphology phenotype","glucose","intercerebral commissure","absent multicellular anatomical structure in the tissue","blood phenotype","heterocyclic compound","Long fingers","hemolymphoid system","simple eye phenotype","Abnormal midface morphology","molecular entity","main group molecular entity","anatomical entity morphology in the brain phenotype","manual digit phenotype","decreased level of chemical entity","dysgenesis of the central nervous system cell part cluster","glucose homeostasis","Abnormality of the amniotic fluid","digestive system","Sacrococcygeal pilonidal abnormality","Abnormality of the vertebral column","brain ventricle/choroid plexus morphology phenotype","bone of dorsum","abdominal segment element","decreased qualitatively biological_process in peripheral nervous system","anatomical entity physiology phenotype","connective tissue","Abnormal foot morphology","increased size of the tract of brain","fused sacrum","irregular bone phenotype","blood bilirubin IXalpha level phenotype","musculoskeletal system phenotype","embryonic craniocervical region","trunk region element","trunk bone phenotype","zone of organ","subdivision of vertebral column","sacral region","skeleton of limb phenotype","forelimb bud phenotype","manual digit 5 morphology phenotype","Abnormality of immune system physiology","abdominal segment of trunk","trunk region element phenotype","Skin dimple","gray matter of forebrain","nose","nervous system cell part layer","telencephalon","cerebral cortex","increased height of the roof of mouth","incomplete closing of the anatomical structure","neocortex","Abnormal skin adnexa morphology","electrically responsive cell","telencephalon phenotype","increased size of the axon tract","dermal skeletal element phenotype","eye physiology phenotype","neuron dysfunction in independent continuant","shape of anatomical entity in pectoral complex phenotype","blood nitrogen molecular entity level phenotype","Growth abnormality","gray matter of forebrain phenotype","decreased functionality of the anatomical entity","germ layer","eukaryotic cell","neurogenesis","electrically active cell","cell phenotype","Eukaryota","anatomical entity dysfunction in primary motor cortex","Absent eyelashes","lobe of cerebral hemisphere","dry skin","Abnormality of the hand","face phenotype","Dry skin","respiratory system phenotype","immune response phenotype","ocular adnexa","immune system","rhombic lip phenotype","forelimb bud morphology phenotype","Abnormal small intestine morphology","immune system phenotype","decreased number of anatomical entity","tapered manual digit","nervous system development","anatomical line phenotype","Abnormal metencephalon morphology","Immunologic hypersensitivity","inguinal hernia","increased qualitatively biological_process","lip phenotype","response to stimulus","response to stimulus phenotype","dorsal region element","biological_process rate phenotype","abdominal segment element phenotype","anatomical entity morphology in the appendage girdle complex phenotype","neuron projection bundle","eyebrow","subdivision of vertebral column phenotype","increased qualitatively response to stimulus","embryonic development/birth phenotype","leg phenotype","increased width of anatomical structure","late embryo phenotype","late embryo","Broad forehead","increased width of forehead","increased thickness of the intercerebral commissure","increased width of organism subdivision","Status epilepticus without prominent motor symptoms","cerebellar cortex","organ","nose tip morphology phenotype","respiratory system physiology phenotype","role blood level phenotype","non-neural ectoderm","anatomical point","white matter of forebrain degeneration","neurogenic placode phenotype","external ear","cranial placode","cellular developmental process","increased volume of anatomical entity","pes phenotype","olfactory organ","Abnormality of the immune system","limb endochondral element phenotype","pelvic region of trunk","mouth morphology phenotype","olfactory placode morphology phenotype","amniotic fluid","ectodermal placode phenotype","foregut phenotype","Abnormal nasal tip morphology","material anatomical entity degeneration","pharyngeal arch 1 morphology phenotype","dermatocranium phenotype","Hypoplastic toenails","increased size of the nose","sensation behavior","Localized skin lesion","nose phenotype","immaterial entity","Periventricular cysts","regional part of nervous system calcification","posterior neural tube phenotype","nose tip","Recurrent infections","acid bodily fluid level phenotype","pilosebaceous unit","increased size of the olfactory organ","embryonic facial prominence","head bone","chemical entity","Hypertonia","olfactory organ phenotype","mouth","increased volume of nose","neural fold morphology phenotype","head phenotype","olfactory placode phenotype","skeleton of lower jaw phenotype","increased height of the material anatomical entity","morphological feature phenotype","Abnormal appendicular skeleton morphology","Delayed gross motor development","decreased anatomical entity tone","increased height of the subdivision of head","increased height of the forehead","Abnormal nasal morphology","High forehead","entire embryonic mesenchyme","bone of jaw phenotype","number of anatomical enitites of type eyelash phenotype","anatomical entity morphology in the pectoral complex phenotype","Tapered finger","tapered anatomical entity","bilateral cryptorchidism; bilateral cryptorchism","increased size of the autopodial extension","shape of digit phenotype","pectoral appendage phenotype","Abnormal finger morphology","camera-type eye","bone of free limb or fin","upper limb segment","cerebral hemisphere morphology phenotype","Abnormal limb bone morphology","anatomical entity calcification","segment of manus","cell motility","sharpness anatomical entity","Abnormal eye morphology","decreased level of glucose in blood","appendicular skeleton morphology phenotype","shape of manual digit phenotype","limb bone morphology phenotype","primary subdivision of skull","appendicular skeleton phenotype","Thin vermilion border","subdivision of organism along main body axis","increased length of the anatomical entity","appendicular skeletal system","muscle structure phenotype","increased length of the multicellular anatomical structure","increased size of the digit","skull morphology phenotype","manual digit","external nose","arm","external male genitalia","bone of free limb or fin phenotype","forelimb phenotype","manual digit morphology in the manus phenotype","lower limb segment phenotype","fused sacrum morphology phenotype","Abnormal digit morphology","upper limb segment phenotype","Abnormality of limbs","increased size of the manual digit","anatomical entity length phenotype","increased length of the anatomical structure","limb morphology phenotype","lower limb segment","Abnormality of limb bone","anatomical entity morphology in the manus phenotype","sharp anatomical entity","Abnormality of digestive system physiology","decreased level of chemical entity in tissue","arm phenotype","increased size of the forehead","pectoral appendage","increased length of the autopodial extension","increased length of the digit","Lower limb spasticity","pectoral appendage bud phenotype","manual digit plus metapodial segment","Hernia","anatomical wall","incomplete closing of the material anatomical entity","subdivision of skeletal system phenotype","incomplete closing of the anatomical entity","anatomical wall phenotype","trunk mesenchyme","incomplete closing of the multicellular anatomical structure","cell physiology phenotype","herniated anatomical entity","Abdominal wall defect","Abnormal abdominal wall morphology","Generalized hypotonia","connective tissue phenotype","Hernia of the abdominal wall","Inguinal hernia","cerebral hemisphere white matter morphology phenotype","size of anatomical entity phenotype","abdominal wall phenotype","abdominal wall","developing anatomical structure phenotype","abdomen","molecule","multicellular organism mass phenotype","non-neural ectoderm phenotype","Abnormality of skull size","increased size of the subdivision of organism along main body axis","Dilated third ventricle","peripheral nervous system","Abnormal skull morphology","carbon oxoacid","Increased head circumference","Macrocephaly","mesenchyme phenotype","size of head phenotype","paraxial mesoderm","increased size of the head","number of anatomical enitites of type multicellular anatomical structure phenotype","germ layer / neural crest phenotype","deeply set eye; enophthalmos","location of anatomical entity phenotype","location of camera-type eye phenotype","eye morphology","ear phenotype","dermal skeleton phenotype","dentary","neural crest-derived structure","pharyngeal arch","mandibular prominence morphology phenotype","jaw skeleton","ectoderm morphology phenotype","neural crest","digit plus metapodial segment","mandibular prominence","foregut","absent anatomical structure in the face","neural crest phenotype","neural groove phenotype","eyelid phenotype","facial bone phenotype","dense mesenchyme tissue","intramembranous bone phenotype","neural groove","Clinodactyly of the 5th finger","chemical homeostasis","dermal skeletal element","increased height of the anatomical entity","oral opening","multi organ part structure physiology phenotype","jaw skeleton morphology 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sapiens","symbol":null,"file_source":null,"provided_by":null,"type":null,"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":null,"has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null}}],"mappings":[{"id":"Orphanet:544488","url":"https://www.orpha.net/en/disease/detail/544488"},{"id":"OMIM:619075","url":"http://identifiers.org/mim/619075"},{"id":"UMLS:C5436741","url":"http://identifiers.org/umls/C5436741"},{"id":"MEDGEN:1775930","url":"http://identifiers.org/medgen/1775930"}],"external_links":[{"id":"GARD:0017987","url":"https://rarediseases.info.nih.gov/diseases/0017987/index"},{"id":"MEDGEN:1775930","url":"http://identifiers.org/medgen/1775930"},{"id":"OMIM:619075","url":"http://identifiers.org/mim/619075"},{"id":"Orphanet:544488","url":"https://www.orpha.net/en/disease/detail/544488"},{"id":"UMLS:C5436741","url":"http://identifiers.org/umls/C5436741"}],"provided_by_link":{"id":"phenio","url":"https://monarch-app.monarchinitiative.org/Sources/phenio/"},"association_counts":[{"label":"Disease to Phenotype","count":96,"category":"biolink:DiseaseToPhenotypicFeatureAssociation","count_direct":96,"count_with_orthologs":null},{"label":"Causal Gene","count":1,"category":"biolink:CausalGeneToDiseaseAssociation","count_direct":1,"count_with_orthologs":null},{"label":"Correlated Gene","count":1,"category":"biolink:CorrelatedGeneToDiseaseAssociation","count_direct":1,"count_with_orthologs":null}],"cross_species_term_clique":null,"node_hierarchy":{"super_classes":[{"id":"MONDO:0100500","category":"biolink:Disease","name":"Mendelian neurodevelopmental 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