Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormal mandible morphology (HP:0000277)help
Parent Node:
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Abnormality of the chin (HP:0000306)help
..Starting node
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Mandibular prognathia (HP:0000303)help
Term ID: 303
Name: Mandibular prognathia
Synonym: Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Hypertrophy of lower jaw; Hypertrophy of mandible; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Increased size of mandible; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism
Definition: Abnormal prominence of the chin related to increased length of the mandible.
Comments:
Reference: HP:0000303
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of depressor labii inferioris (HP:3000029) help
..expandAbnormality of mentalis muscle (HP:3000007) help
..expandBroad chin (HP:0011822) help
..expandChin with H-shaped crease (HP:0011824) help
..expandChin with horizontal crease (HP:0011823) help
..expandChin with vertical crease (HP:0400001) help
..expandCleft of chin (HP:0011323) help
..expandDimple chin (HP:0010751) help
..expandPointed chin (HP:0000307) help
..expandShort chin (HP:0000331) help
..expandTall chin (HP:0400000) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000303HP:0000303Mandibular prognathia0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0000303HP:0000303Mandibular prognathia0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0000303HP:0000303Mandibular prognathia0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000303HP:0000303Mandibular prognathia0ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentisHP:0040282 - Frequent84
HP:0000303HP:0000303Mandibular prognathia0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000303HP:0000303Mandibular prognathia0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0000303HP:0000303Mandibular prognathia0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0000303HP:0000303Mandibular prognathia0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0000303HP:0000303Mandibular prognathia0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0000303HP:0000303Mandibular prognathia0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0000303HP:0000303Mandibular prognathia0AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0000303HP:0000303Mandibular prognathia0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000303HP:0000303Mandibular prognathia0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant.164
HP:0000303HP:0000303Mandibular prognathia0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040282 - Frequent8
HP:0000303HP:0000303Mandibular prognathia0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0000303HP:0000303Mandibular prognathia0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0000303HP:0000303Mandibular prognathia0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0000303HP:0000303Mandibular prognathia0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 3.1
HP:0000303HP:0000303Mandibular prognathia0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000303HP:0000303Mandibular prognathia0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0000303HP:0000303Mandibular prognathia0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0000303HP:0000303Mandibular prognathia0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0000303HP:0000303Mandibular prognathia0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0000303HP:0000303Mandibular prognathia0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0000303HP:0000303Mandibular prognathia0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0000303HP:0000303Mandibular prognathia0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0000303HP:0000303Mandibular prognathia0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0000303HP:0000303Mandibular prognathia0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0000303HP:0000303Mandibular prognathia0CDC42BPB CL E G H95781738OMIM:619841
HP:0000303HP:0000303Mandibular prognathia0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000303HP:0000303Mandibular prognathia0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000303HP:0000303Mandibular prognathia0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000303HP:0000303Mandibular prognathia0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000303HP:0000303Mandibular prognathia0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0000303HP:0000303Mandibular prognathia0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0000303HP:0000303Mandibular prognathia0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000303HP:0000303Mandibular prognathia0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0000303HP:0000303Mandibular prognathia0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0000303HP:0000303Mandibular prognathia0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000303HP:0000303Mandibular prognathia0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0000303HP:0000303Mandibular prognathia0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24.33
HP:0000303HP:0000303Mandibular prognathia0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000303HP:0000303Mandibular prognathia0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000303HP:0000303Mandibular prognathia0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0000303HP:0000303Mandibular prognathia0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.3
HP:0000303HP:0000303Mandibular prognathia0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0000303HP:0000303Mandibular prognathia0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000303HP:0000303Mandibular prognathia0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent20
HP:0000303HP:0000303Mandibular prognathia0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0000303HP:0000303Mandibular prognathia0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0000303HP:0000303Mandibular prognathia0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent199
HP:0000303HP:0000303Mandibular prognathia0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000303HP:0000303Mandibular prognathia0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000303HP:0000303Mandibular prognathia0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0000303HP:0000303Mandibular prognathia0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent55
HP:0000303HP:0000303Mandibular prognathia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000303HP:0000303Mandibular prognathia0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000303HP:0000303Mandibular prognathia0FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:0000303HP:0000303Mandibular prognathia0FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentisHP:0040282 - Frequent1361
HP:0000303HP:0000303Mandibular prognathia0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000303HP:0000303Mandibular prognathia0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000303HP:0000303Mandibular prognathia0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray typeHP:0040283 - Occasional175
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040282 - Frequent175
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000303HP:0000303Mandibular prognathia0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000303HP:0000303Mandibular prognathia0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000303HP:0000303Mandibular prognathia0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0000303HP:0000303Mandibular prognathia0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0000303HP:0000303Mandibular prognathia0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000303HP:0000303Mandibular prognathia0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0000303HP:0000303Mandibular prognathia0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040282 - Frequent177
HP:0000303HP:0000303Mandibular prognathia0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000303HP:0000303Mandibular prognathia0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0000303HP:0000303Mandibular prognathia0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000303HP:0000303Mandibular prognathia0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000303HP:0000303Mandibular prognathia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0000303HP:0000303Mandibular prognathia0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000303HP:0000303Mandibular prognathia0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000303HP:0000303Mandibular prognathia0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0000303HP:0000303Mandibular prognathia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000303HP:0000303Mandibular prognathia0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0000303HP:0000303Mandibular prognathia0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0000303HP:0000303Mandibular prognathia0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0000303HP:0000303Mandibular prognathia0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0000303HP:0000303Mandibular prognathia0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000303HP:0000303Mandibular prognathia0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0000303HP:0000303Mandibular prognathia0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000303HP:0000303Mandibular prognathia0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0000303HP:0000303Mandibular prognathia0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000303HP:0000303Mandibular prognathia0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000303HP:0000303Mandibular prognathia0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000303HP:0000303Mandibular prognathia0H4C5 CL E G H83674790OMIM:619950
HP:0000303HP:0000303Mandibular prognathia0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000303HP:0000303Mandibular prognathia0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0000303HP:0000303Mandibular prognathia0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0000303HP:0000303Mandibular prognathia0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0000303HP:0000303Mandibular prognathia0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000303HP:0000303Mandibular prognathia0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0000303HP:0000303Mandibular prognathia0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000303HP:0000303Mandibular prognathia0IDUA CL E G H34255391OMIM:607016Scheie syndrome.115
HP:0000303HP:0000303Mandibular prognathia0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000303HP:0000303Mandibular prognathia0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000303HP:0000303Mandibular prognathia0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000303HP:0000303Mandibular prognathia0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000303HP:0000303Mandibular prognathia0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0000303HP:0000303Mandibular prognathia0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000303HP:0000303Mandibular prognathia0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000303HP:0000303Mandibular prognathia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000303HP:0000303Mandibular prognathia0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000303HP:0000303Mandibular prognathia0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0000303HP:0000303Mandibular prognathia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000303HP:0000303Mandibular prognathia0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000303HP:0000303Mandibular prognathia0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000303HP:0000303Mandibular prognathia0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000303HP:0000303Mandibular prognathia0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0000303HP:0000303Mandibular prognathia0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0000303HP:0000303Mandibular prognathia0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0000303HP:0000303Mandibular prognathia0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0000303HP:0000303Mandibular prognathia0LRP5 CL E G H40416697ORPHA:2790Endosteal hyperostosis, Worth typeHP:0040283 - Occasional125
HP:0000303HP:0000303Mandibular prognathia0LRP5 CL E G H40416697ORPHA:3416Hyperostosis corticalis generalisataHP:0040281 - Very frequent125
HP:0000303HP:0000303Mandibular prognathia0LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short statureHP:0040283 - Occasional12
HP:0000303HP:0000303Mandibular prognathia0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndromeHP:0040283 - Occasional21
HP:0000303HP:0000303Mandibular prognathia0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000303HP:0000303Mandibular prognathia0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000303HP:0000303Mandibular prognathia0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000303HP:0000303Mandibular prognathia0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000303HP:0000303Mandibular prognathia0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000303HP:0000303Mandibular prognathia0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0000303HP:0000303Mandibular prognathia0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000303HP:0000303Mandibular prognathia0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0000303HP:0000303Mandibular prognathia0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000303HP:0000303Mandibular prognathia0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0000303HP:0000303Mandibular prognathia0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0000303HP:0000303Mandibular prognathia0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional1269
HP:0000303HP:0000303Mandibular prognathia0MYH8 CL E G H46267578ORPHA:3377Trismus-pseudocamptodactyly syndromeHP:0040283 - Occasional93
HP:0000303HP:0000303Mandibular prognathia0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000303HP:0000303Mandibular prognathia0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0000303HP:0000303Mandibular prognathia0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000303HP:0000303Mandibular prognathia0NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0000303HP:0000303Mandibular prognathia0NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040281 - Very frequent88
HP:0000303HP:0000303Mandibular prognathia0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000303HP:0000303Mandibular prognathia0NSRP1 CL E G H8408125305OMIM:620001
HP:0000303HP:0000303Mandibular prognathia0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0000303HP:0000303Mandibular prognathia0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000303HP:0000303Mandibular prognathia0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000303HP:0000303Mandibular prognathia0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0000303HP:0000303Mandibular prognathia0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0000303HP:0000303Mandibular prognathia0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040281 - Very frequent59
HP:0000303HP:0000303Mandibular prognathia0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000303HP:0000303Mandibular prognathia0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000303HP:0000303Mandibular prognathia0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000303HP:0000303Mandibular prognathia0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000303HP:0000303Mandibular prognathia0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040282 - Frequent113
HP:0000303HP:0000303Mandibular prognathia0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000303HP:0000303Mandibular prognathia0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0000303HP:0000303Mandibular prognathia0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040282 - Frequent113
HP:0000303HP:0000303Mandibular prognathia0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000303HP:0000303Mandibular prognathia0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000303HP:0000303Mandibular prognathia0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000303HP:0000303Mandibular prognathia0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000303HP:0000303Mandibular prognathia0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0000303HP:0000303Mandibular prognathia0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000303HP:0000303Mandibular prognathia0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000303HP:0000303Mandibular prognathia0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000303HP:0000303Mandibular prognathia0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000303HP:0000303Mandibular prognathia0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0000303HP:0000303Mandibular prognathia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000303HP:0000303Mandibular prognathia0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0000303HP:0000303Mandibular prognathia0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000303HP:0000303Mandibular prognathia0PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous typeHP:0040282 - Frequent28
HP:0000303HP:0000303Mandibular prognathia0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040283 - Occasional28
HP:0000303HP:0000303Mandibular prognathia0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000303HP:0000303Mandibular prognathia0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040282 - Frequent134
HP:0000303HP:0000303Mandibular prognathia0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0000303HP:0000303Mandibular prognathia0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0000303HP:0000303Mandibular prognathia0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000303HP:0000303Mandibular prognathia0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000303HP:0000303Mandibular prognathia0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000303HP:0000303Mandibular prognathia0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000303HP:0000303Mandibular prognathia0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000303HP:0000303Mandibular prognathia0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0000303HP:0000303Mandibular prognathia0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040282 - Frequent948
HP:0000303HP:0000303Mandibular prognathia0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000303HP:0000303Mandibular prognathia0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000303HP:0000303Mandibular prognathia0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0000303HP:0000303Mandibular prognathia0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0000303HP:0000303Mandibular prognathia0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000303HP:0000303Mandibular prognathia0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0000303HP:0000303Mandibular prognathia0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000303HP:0000303Mandibular prognathia0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000303HP:0000303Mandibular prognathia0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0000303HP:0000303Mandibular prognathia0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0000303HP:0000303Mandibular prognathia0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0000303HP:0000303Mandibular prognathia0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000303HP:0000303Mandibular prognathia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0000303HP:0000303Mandibular prognathia0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040280 - Obligate10
HP:0000303HP:0000303Mandibular prognathia0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000303HP:0000303Mandibular prognathia0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000303HP:0000303Mandibular prognathia0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0000303HP:0000303Mandibular prognathia0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000303HP:0000303Mandibular prognathia0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional144
HP:0000303HP:0000303Mandibular prognathia0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000303HP:0000303Mandibular prognathia0SFRP4 CL E G H642410778OMIM:265900Pyle disease.3
HP:0000303HP:0000303Mandibular prognathia0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0000303HP:0000303Mandibular prognathia0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000303HP:0000303Mandibular prognathia0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000303HP:0000303Mandibular prognathia0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0000303HP:0000303Mandibular prognathia0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000303HP:0000303Mandibular prognathia0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000303HP:0000303Mandibular prognathia0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0000303HP:0000303Mandibular prognathia0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0000303HP:0000303Mandibular prognathia0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000303HP:0000303Mandibular prognathia0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040283 - Occasional93
HP:0000303HP:0000303Mandibular prognathia0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0000303HP:0000303Mandibular prognathia0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000303HP:0000303Mandibular prognathia0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040281 - Very frequent504
HP:0000303HP:0000303Mandibular prognathia0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000303HP:0000303Mandibular prognathia0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000303HP:0000303Mandibular prognathia0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040284 - Very rare19
HP:0000303HP:0000303Mandibular prognathia0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0000303HP:0000303Mandibular prognathia0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional37
HP:0000303HP:0000303Mandibular prognathia0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000303HP:0000303Mandibular prognathia0SOST CL E G H5096413771ORPHA:3416Hyperostosis corticalis generalisataHP:0040281 - Very frequent26
HP:0000303HP:0000303Mandibular prognathia0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000303HP:0000303Mandibular prognathia0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0000303HP:0000303Mandibular prognathia0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000303HP:0000303Mandibular prognathia0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0000303HP:0000303Mandibular prognathia0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000303HP:0000303Mandibular prognathia0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000303HP:0000303Mandibular prognathia0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000303HP:0000303Mandibular prognathia0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000303HP:0000303Mandibular prognathia0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0000303HP:0000303Mandibular prognathia0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0000303HP:0000303Mandibular prognathia0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0000303HP:0000303Mandibular prognathia0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040282 - Frequent
HP:0000303HP:0000303Mandibular prognathia0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessive.4
HP:0000303HP:0000303Mandibular prognathia0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000303HP:0000303Mandibular prognathia0TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0000303HP:0000303Mandibular prognathia0THUMPD1 CL E G H5562323807OMIM:619989
HP:0000303HP:0000303Mandibular prognathia0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0000303HP:0000303Mandibular prognathia0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0000303HP:0000303Mandibular prognathia0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0000303HP:0000303Mandibular prognathia0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0000303HP:0000303Mandibular prognathia0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5.
HP:0000303HP:0000303Mandibular prognathia0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional7128
HP:0000303HP:0000303Mandibular prognathia0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000303HP:0000303Mandibular prognathia0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000303HP:0000303Mandibular prognathia0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0000303HP:0000303Mandibular prognathia0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0000303HP:0000303Mandibular prognathia0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional278
HP:0000303HP:0000303Mandibular prognathia0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0000303HP:0000303Mandibular prognathia0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040283 - Occasional278
HP:0000303HP:0000303Mandibular prognathia0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000303HP:0000303Mandibular prognathia0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0000303HP:0000303Mandibular prognathia0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0000303HP:0000303Mandibular prognathia0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362


Genes (200) :ACAN ADAMTSL1 ADAMTSL4 AFF3 AGA AGPAT2 AIMP2 AIP ALG14 ANKH ANTXR1 AP1S2 AP4M1 APC APC2 ATAD3A ATP10A ATP6V0A1 ATRX BSCL2 CACNA1G CAV1 CAVIN1 CDC42BPB CDH11 CHRNE CLCN3 CLCN4 CLIC2 CNOT3 COLQ CSNK2B CUL4B CUL7 DEAF1 DLK1 DNMT3A DOCK3 DYM EHMT1 ERCC1 ERCC4 ERCC6 ERCC8 EXOSC5 EZH2 FAM20C FBN1 FBXW11 FGFR1 FGFR2 FLCN FLII FMR1 FOS FOXG1 FOXP1 GALNS GFPT1 GJA1 GJA5 GJA8 GLB1 GNB2 GNPTAB GORAB GPC3 GPC4 GPR101 GRIA3 H3-3A H3-3B H4C5 HERC1 HERC2 HNF1B HNRNPH1 HS6ST2 IARS2 IDUA IL11RA IL1RAPL1 IL6ST INSR IQSEC2 KAT5 KAT6A KCNH1 KCTD1 KDM5C KDM6B KIF11 KIF7 KPTN LAMB2 LRP4 LRP5 LTBP3 MAF MAGEL2 MAN2B1 MBD5 MED13L MED25 MEG3 MEN1 MESD MSTO1 MYH3 MYH7 MYH8 MYOD1 NDST1 NEXMIF NFIX NHS NSD1 NSRP1 OCA2 OCRL OPHN1 P4HTM PAX3 PCDHGC4 PCGF2 PDE4D PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PMM2 POC1A POGZ PPARG PQBP1 PRKACB PRKAR1A PRKG2 PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PUF60 PYCR1 RAF1 RAI1 RECQL4 RMRP RNF113A RNF125 RPL10 RPS6KA3 RTL1 RUNX2 RUSC2 SELENON SETD2 SFRP4 SH3PXD2B SLC12A2 SLC25A24 SLC35A2 SLC35C1 SLC6A17 SLC6A8 SLC9A6 SMAD4 SMPD4 SMS SNRPN SOST SOX18 SRCAP STAG2 STEEP1 STT3A SUFU SUZ12 SVIL TAFAZZIN TBC1D2B TBC1D7 TBCK TGFB1 THUMPD1 TNFSF11 TNNI2 TONSL TPRKB TTN TWIST2 TXNL4A UBE3A UPF3B WDR62 ZEB2

Diseases (217) :OMIM:612813 ORPHA:171866 ORPHA:521445 ORPHA:1885 OMIM:619297 ORPHA:93 ORPHA:528 OMIM:608594 OMIM:618006 ORPHA:963 ORPHA:99725 OMIM:619031 OMIM:123000 ORPHA:2067 OMIM:304340 OMIM:612936 ORPHA:261584 OMIM:617169 OMIM:617183 ORPHA:496790 ORPHA:411515 OMIM:619971 OMIM:301040 OMIM:269700 OMIM:618087 OMIM:619841 ORPHA:1299 OMIM:211380 OMIM:608931 OMIM:619512 OMIM:300114 ORPHA:324410 OMIM:618672 ORPHA:98915 OMIM:618732 OMIM:300354 OMIM:273750 OMIM:615828 ORPHA:819 ORPHA:96334 ORPHA:404443 OMIM:618292 OMIM:223800 OMIM:610253 ORPHA:90322 ORPHA:90321 OMIM:133540 OMIM:216400 OMIM:619576 OMIM:277590 OMIM:259775 OMIM:618914 OMIM:166250 OMIM:101600 ORPHA:87 OMIM:101200 OMIM:123500 ORPHA:168624 ORPHA:1540 OMIM:610883 OMIM:300624 ORPHA:908 ORPHA:449291 ORPHA:261144 ORPHA:391372 OMIM:253000 OMIM:218400 ORPHA:2710 OMIM:612474 OMIM:253010 OMIM:619503 OMIM:252600 ORPHA:2078 OMIM:231070 ORPHA:373 OMIM:312870 ORPHA:364028 OMIM:619720 OMIM:619721 OMIM:619950 OMIM:617011 ORPHA:457359 OMIM:615516 ORPHA:93111 OMIM:620083 OMIM:301025 OMIM:616007 OMIM:607016 OMIM:614188 OMIM:300143 OMIM:619750 OMIM:262190 ORPHA:769 OMIM:619103 OMIM:616268 OMIM:135500 OMIM:181270 OMIM:300534 OMIM:618505 OMIM:152950 OMIM:200990 ORPHA:397612 OMIM:615637 OMIM:614305 ORPHA:2790 ORPHA:3416 OMIM:601216 OMIM:601088 OMIM:615547 OMIM:248500 ORPHA:309282 OMIM:156200 ORPHA:369891 ORPHA:464738 OMIM:618644 OMIM:617675 OMIM:193700 ORPHA:324604 ORPHA:3377 OMIM:618975 OMIM:616116 OMIM:300912 OMIM:614753 ORPHA:627 OMIM:117550 OMIM:620001 ORPHA:98794 ORPHA:534 OMIM:300486 ORPHA:137831 OMIM:618493 ORPHA:894 OMIM:193500 OMIM:148820 OMIM:619880 OMIM:618371 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 ORPHA:247262 OMIM:239300 ORPHA:79318 OMIM:614813 OMIM:616364 OMIM:309500 ORPHA:93945 ORPHA:93950 OMIM:619143 OMIM:101800 OMIM:619636 OMIM:109400 ORPHA:377 ORPHA:2658 ORPHA:2969 OMIM:151100 ORPHA:508498 OMIM:611554 OMIM:611553 OMIM:182290 OMIM:268400 OMIM:607095 OMIM:300953 OMIM:616260 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:303600 ORPHA:1452 OMIM:617773 OMIM:616831 OMIM:265900 ORPHA:137834 OMIM:619080 OMIM:612289 ORPHA:2963 OMIM:300896 ORPHA:99843 OMIM:616269 ORPHA:457212 OMIM:300352 ORPHA:85278 OMIM:300243 OMIM:139210 ORPHA:2588 OMIM:618622 OMIM:309583 ORPHA:3063 OMIM:105830 OMIM:122860 OMIM:269500 OMIM:137940 OMIM:619595 ORPHA:521258 OMIM:301013 OMIM:619714 OMIM:618786 OMIM:619040 OMIM:302060 ORPHA:397973 OMIM:248000 ORPHA:488632 OMIM:131300 OMIM:619989 OMIM:259710 OMIM:601680 ORPHA:93357 OMIM:271510 OMIM:617731 OMIM:209885 OMIM:608572 ORPHA:411511 ORPHA:98795 OMIM:300676 OMIM:604317 ORPHA:261552 ORPHA:261537
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.