Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
expand
Abnormality of mouth size (HP:0011337)help
..Starting node
..expand
Wide mouth (HP:0000154)help
Term ID: 154
Name: Wide mouth
Synonym: Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth
Definition: Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Comments:
Reference: HP:0000154
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandNarrow mouth (HP:0000160) 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:0000154HP:0000154Wide mouth0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent254
HP:0000154HP:0000154Wide mouth0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000154HP:0000154Wide mouth0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000154HP:0000154Wide mouth0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000154HP:0000154Wide mouth0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2.123
HP:0000154HP:0000154Wide mouth0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0000154HP:0000154Wide mouth0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0000154HP:0000154Wide mouth0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000154HP:0000154Wide mouth0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000154HP:0000154Wide mouth0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000154HP:0000154Wide mouth0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000154HP:0000154Wide mouth0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0000154HP:0000154Wide mouth0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000154HP:0000154Wide mouth0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0000154HP:0000154Wide mouth0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040282 - Frequent102
HP:0000154HP:0000154Wide mouth0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0000154HP:0000154Wide mouth0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0000154HP:0000154Wide mouth0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0000154HP:0000154Wide mouth0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0000154HP:0000154Wide mouth0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0000154HP:0000154Wide mouth0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000154HP:0000154Wide mouth0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0000154HP:0000154Wide mouth0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0000154HP:0000154Wide mouth0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0000154HP:0000154Wide mouth0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000154HP:0000154Wide mouth0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent88
HP:0000154HP:0000154Wide mouth0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000154HP:0000154Wide mouth0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent219
HP:0000154HP:0000154Wide mouth0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000154HP:0000154Wide mouth0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent25
HP:0000154HP:0000154Wide mouth0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000154HP:0000154Wide mouth0ATIC CL E G H471794ORPHA:250977AICA-ribosiduriaHP:0040281 - Very frequent4
HP:0000154HP:0000154Wide mouth0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0000154HP:0000154Wide mouth0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0000154HP:0000154Wide mouth0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0000154HP:0000154Wide mouth0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0000154HP:0000154Wide mouth0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000154HP:0000154Wide mouth0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26HP:0040283 - Occasional61
HP:0000154HP:0000154Wide mouth0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000154HP:0000154Wide mouth0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000154HP:0000154Wide mouth0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0000154HP:0000154Wide mouth0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000154HP:0000154Wide mouth0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000154HP:0000154Wide mouth0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000154HP:0000154Wide mouth0CDC42BPB CL E G H95781738OMIM:619841
HP:0000154HP:0000154Wide mouth0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000154HP:0000154Wide mouth0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000154HP:0000154Wide mouth0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0000154HP:0000154Wide mouth0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000154HP:0000154Wide mouth0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0000154HP:0000154Wide mouth0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000154HP:0000154Wide mouth0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000154HP:0000154Wide mouth0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0000154HP:0000154Wide mouth0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000154HP:0000154Wide mouth0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000154HP:0000154Wide mouth0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0000154HP:0000154Wide mouth0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000154HP:0000154Wide mouth0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000154HP:0000154Wide mouth0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000154HP:0000154Wide mouth0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040282 - Frequent18
HP:0000154HP:0000154Wide mouth0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040282 - Frequent18
HP:0000154HP:0000154Wide mouth0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000154HP:0000154Wide mouth0FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:0000154HP:0000154Wide mouth0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0000154HP:0000154Wide mouth0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0000154HP:0000154Wide mouth0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0000154HP:0000154Wide mouth0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0000154HP:0000154Wide mouth0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0000154HP:0000154Wide mouth0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000154HP:0000154Wide mouth0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000154HP:0000154Wide mouth0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0000154HP:0000154Wide mouth0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0000154HP:0000154Wide mouth0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000154HP:0000154Wide mouth0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000154HP:0000154Wide mouth0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000154HP:0000154Wide mouth0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000154HP:0000154Wide mouth0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000154HP:0000154Wide mouth0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000154HP:0000154Wide mouth0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000154HP:0000154Wide mouth0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000154HP:0000154Wide mouth0H4C5 CL E G H83674790OMIM:619950
HP:0000154HP:0000154Wide mouth0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040283 - Occasional2
HP:0000154HP:0000154Wide mouth0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000154HP:0000154Wide mouth0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000154HP:0000154Wide mouth0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000154HP:0000154Wide mouth0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000154HP:0000154Wide mouth0IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040283 - Occasional115
HP:0000154HP:0000154Wide mouth0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0000154HP:0000154Wide mouth0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000154HP:0000154Wide mouth0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000154HP:0000154Wide mouth0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000154HP:0000154Wide mouth0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000154HP:0000154Wide mouth0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000154HP:0000154Wide mouth0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0000154HP:0000154Wide mouth0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000154HP:0000154Wide mouth0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0000154HP:0000154Wide mouth0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0000154HP:0000154Wide mouth0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent23
HP:0000154HP:0000154Wide mouth0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000154HP:0000154Wide mouth0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000154HP:0000154Wide mouth0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0000154HP:0000154Wide mouth0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000154HP:0000154Wide mouth0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000154HP:0000154Wide mouth0KIF15 CL E G H5699217273OMIM:619981
HP:0000154HP:0000154Wide mouth0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000154HP:0000154Wide mouth0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0000154HP:0000154Wide mouth0KMT2B CL E G H975715840OMIM:61993411
HP:0000154HP:0000154Wide mouth0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040281 - Very frequent16
HP:0000154HP:0000154Wide mouth0LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0000154HP:0000154Wide mouth0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0000154HP:0000154Wide mouth0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3.134
HP:0000154HP:0000154Wide mouth0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000154HP:0000154Wide mouth0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000154HP:0000154Wide mouth0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000154HP:0000154Wide mouth0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000154HP:0000154Wide mouth0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000154HP:0000154Wide mouth0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000154HP:0000154Wide mouth0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040282 - Frequent74
HP:0000154HP:0000154Wide mouth0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0000154HP:0000154Wide mouth0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000154HP:0000154Wide mouth0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000154HP:0000154Wide mouth0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0000154HP:0000154Wide mouth0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000154HP:0000154Wide mouth0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0000154HP:0000154Wide mouth0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000154HP:0000154Wide mouth0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0000154HP:0000154Wide mouth0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000154HP:0000154Wide mouth0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000154HP:0000154Wide mouth0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0000154HP:0000154Wide mouth0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000154HP:0000154Wide mouth0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0000154HP:0000154Wide mouth0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000154HP:0000154Wide mouth0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0000154HP:0000154Wide mouth0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0000154HP:0000154Wide mouth0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0000154HP:0000154Wide mouth0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0000154HP:0000154Wide mouth0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0000154HP:0000154Wide mouth0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000154HP:0000154Wide mouth0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000154HP:0000154Wide mouth0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000154HP:0000154Wide mouth0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000154HP:0000154Wide mouth0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000154HP:0000154Wide mouth0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000154HP:0000154Wide mouth0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0000154HP:0000154Wide mouth0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0000154HP:0000154Wide mouth0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000154HP:0000154Wide mouth0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000154HP:0000154Wide mouth0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0000154HP:0000154Wide mouth0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000154HP:0000154Wide mouth0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000154HP:0000154Wide mouth0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000154HP:0000154Wide mouth0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000154HP:0000154Wide mouth0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000154HP:0000154Wide mouth0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000154HP:0000154Wide mouth0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000154HP:0000154Wide mouth0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040283 - Occasional54
HP:0000154HP:0000154Wide mouth0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040282 - Frequent6
HP:0000154HP:0000154Wide mouth0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000154HP:0000154Wide mouth0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000154HP:0000154Wide mouth0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040283 - Occasional150
HP:0000154HP:0000154Wide mouth0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000154HP:0000154Wide mouth0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0000154HP:0000154Wide mouth0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000154HP:0000154Wide mouth0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0000154HP:0000154Wide mouth0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000154HP:0000154Wide mouth0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0000154HP:0000154Wide mouth0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000154HP:0000154Wide mouth0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0000154HP:0000154Wide mouth0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0000154HP:0000154Wide mouth0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0000154HP:0000154Wide mouth0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000154HP:0000154Wide mouth0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0000154HP:0000154Wide mouth0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0000154HP:0000154Wide mouth0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000154HP:0000154Wide mouth0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0000154HP:0000154Wide mouth0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0000154HP:0000154Wide mouth0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000154HP:0000154Wide mouth0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0000154HP:0000154Wide mouth0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0000154HP:0000154Wide mouth0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000154HP:0000154Wide mouth0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0000154HP:0000154Wide mouth0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0000154HP:0000154Wide mouth0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000154HP:0000154Wide mouth0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0000154HP:0000154Wide mouth0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0000154HP:0000154Wide mouth0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent617
HP:0000154HP:0000154Wide mouth0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0000154HP:0000154Wide mouth0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent87
HP:0000154HP:0000154Wide mouth0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0000154HP:0000154Wide mouth0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent1
HP:0000154HP:0000154Wide mouth0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000154HP:0000154Wide mouth0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent47
HP:0000154HP:0000154Wide mouth0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000154HP:0000154Wide mouth0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0000154HP:0000154Wide mouth0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0000154HP:0000154Wide mouth0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional37
HP:0000154HP:0000154Wide mouth0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000154HP:0000154Wide mouth0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000154HP:0000154Wide mouth0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent14
HP:0000154HP:0000154Wide mouth0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10.
HP:0000154HP:0000154Wide mouth0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000154HP:0000154Wide mouth0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000154HP:0000154Wide mouth0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000154HP:0000154Wide mouth0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0000154HP:0000154Wide mouth0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0000154HP:0000154Wide mouth0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy12
HP:0000154HP:0000154Wide mouth0SSR4 CL E G H674811326ORPHA:370927SSR4-CDGHP:0040281 - Very frequent12
HP:0000154HP:0000154Wide mouth0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47.9
HP:0000154HP:0000154Wide mouth0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040282 - Frequent9
HP:0000154HP:0000154Wide mouth0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000154HP:0000154Wide mouth0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0000154HP:0000154Wide mouth0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0000154HP:0000154Wide mouth0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000154HP:0000154Wide mouth0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0000154HP:0000154Wide mouth0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000154HP:0000154Wide mouth0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0000154HP:0000154Wide mouth0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0000154HP:0000154Wide mouth0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0000154HP:0000154Wide mouth0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000154HP:0000154Wide mouth0THUMPD1 CL E G H5562323807OMIM:619989
HP:0000154HP:0000154Wide mouth0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0000154HP:0000154Wide mouth0TMEM147 CL E G H1043030414OMIM:620075
HP:0000154HP:0000154Wide mouth0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0000154HP:0000154Wide mouth0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0000154HP:0000154Wide mouth0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000154HP:0000154Wide mouth0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000154HP:0000154Wide mouth0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000154HP:0000154Wide mouth0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040281 - Very frequent7
HP:0000154HP:0000154Wide mouth0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0000154HP:0000154Wide mouth0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0000154HP:0000154Wide mouth0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000154HP:0000154Wide mouth0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000154HP:0000154Wide mouth0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040281 - Very frequent7
HP:0000154HP:0000154Wide mouth0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0000154HP:0000154Wide mouth0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0000154HP:0000154Wide mouth0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional278
HP:0000154HP:0000154Wide mouth0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0000154HP:0000154Wide mouth0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0000154HP:0000154Wide mouth0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000154HP:0000154Wide mouth0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000154HP:0000154Wide mouth0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000154HP:0000154Wide mouth0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0000154HP:0000154Wide mouth0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0000154HP:0000154Wide mouth0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000154HP:0000154Wide mouth0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000154HP:0000154Wide mouth0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0000154HP:0000154Wide mouth0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0000154HP:0000154Wide mouth0ZNF526 CL E G H11611529415OMIM:61987724
HP:0000154HP:0000154Wide mouth0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000154HP:0000154Wide mouth0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040283 - Occasional5


Genes (210) :ABCC9 ACTB ACTG1 ACTL6B ADAMTSL2 ADAT3 ADNP ADSL AFF3 AGA ALG9 ANKRD11 AP1S2 AP2M1 AP4B1 AP4E1 AP4M1 AP4S1 ARID1A ARID1B ARID2 ASXL3 ATIC ATP10A ATP6V1B2 ATPAF2 ATRX AUTS2 B3GLCT BAZ1B BCL7B BRPF1 BUD23 CAMK2A CD96 CDC42 CDC42BPB CDK19 CENPF CHD2 CLIP2 CUL4B DACT1 DDB1 DDX11 DHCR7 DNAJC30 DPF2 DPYD DPYSL5 DVL1 EIF4H ELN ERLIN2 EXOSC5 FAM20C FKBP6 FLCN GALNS GATAD2B GLB1 GNB2 GNPTAB GNS GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C11 H4C3 H4C5 HDAC6 HECW2 HNRNPH2 HS2ST1 HUWE1 IDUA IFT140 INSR IRX5 KAT5 KAT6A KATNB1 KCNH1 KCNJ8 KCNK4 KCNMA1 KCNN3 KDM3B KDM6B KIF15 KIF7 KLHL15 KMT2B LARP7 LIG4 LIMK1 MAP2K1 MAP3K7 MAPK1 MBD5 MED12 MED13 MED13L METTL27 MGAT2 MKS1 MLXIPL MTOR MYT1L NALCN NCF1 NEXMIF NMNAT1 NONO NR2F1 NRXN1 NSUN2 NXN OCA2 OFD1 PACS1 PACS2 PGAP1 PIGB PIGL PIGN PIGU PIK3CA PMM2 POLA1 POLR1B POLR1C POLR1D PPM1D PRPS1 PSPH PTDSS1 QRICH1 RAF1 RAI1 RALGAPA1 RFC2 RNF113A RNF2 ROR2 RPS6KA3 SALL1 SCN1A SEC23A SET SETBP1 SETD1A SF3B2 SF3B4 SH3PXD2B SKIC3 SLC12A2 SLC2A1 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNIP1 SNRPN SOS1 SOX11 SOX4 SPEN SPRED2 SRCAP SSR4 STAG1 STRADA STX1A SYNGAP1 TALDO1 TASP1 TBL2 TCF4 TCOF1 THUMPD1 TMCO1 TMEM147 TMEM270 TMEM67 TMEM70 TRIO TRIP12 TRRAP TWIST2 UBE2A UBE3A UBE3B VPS37D WAC WDR4 WDR73 WLS ZMIZ1 ZMYND11 ZNF148 ZNF526 ZNF699 ZSWIM6

Diseases (212) :ORPHA:1517 ORPHA:2995 OMIM:243310 OMIM:614583 OMIM:618470 OMIM:231050 ORPHA:363528 OMIM:615873 OMIM:103050 OMIM:619297 OMIM:208400 ORPHA:79328 OMIM:608776 ORPHA:261250 OMIM:304340 ORPHA:1942 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:615485 ORPHA:250977 OMIM:608688 ORPHA:411515 ORPHA:3473 OMIM:604273 OMIM:309580 OMIM:615834 ORPHA:709 ORPHA:904 OMIM:617333 OMIM:617798 OMIM:211750 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:618916 OMIM:243605 OMIM:300354 ORPHA:85293 ORPHA:857 OMIM:619426 OMIM:613398 ORPHA:818 OMIM:618027 ORPHA:293948 OMIM:619435 OMIM:616331 ORPHA:209951 ORPHA:280384 OMIM:619576 OMIM:259775 OMIM:610883 OMIM:253000 OMIM:615074 ORPHA:363686 OMIM:253010 OMIM:619503 OMIM:252500 OMIM:252940 ORPHA:373 OMIM:312870 OMIM:619720 OMIM:619759 OMIM:619758 OMIM:619950 ORPHA:163966 OMIM:617268 OMIM:300986 OMIM:619194 OMIM:309590 ORPHA:93474 OMIM:266920 OMIM:246200 OMIM:611174 OMIM:619103 OMIM:616268 OMIM:616212 OMIM:611816 ORPHA:420561 OMIM:135500 OMIM:618381 OMIM:618729 OMIM:618846 OMIM:618505 OMIM:619981 OMIM:200990 OMIM:300982 OMIM:619934 ORPHA:319671 OMIM:615071 ORPHA:235 OMIM:615279 OMIM:157800 OMIM:619087 OMIM:156200 ORPHA:93932 OMIM:305450 OMIM:618009 ORPHA:369891 OMIM:616789 OMIM:212066 OMIM:249000 ORPHA:457485 OMIM:616638 OMIM:616521 OMIM:615419 OMIM:619260 ORPHA:466791 OMIM:300967 OMIM:615722 OMIM:614325 ORPHA:1507 ORPHA:98794 OMIM:300209 ORPHA:329224 OMIM:615009 OMIM:618067 OMIM:615802 OMIM:618580 OMIM:280000 ORPHA:2059 ORPHA:280633 OMIM:618590 ORPHA:60040 ORPHA:79318 OMIM:301030 ORPHA:861 OMIM:617450 OMIM:300661 ORPHA:79350 ORPHA:2658 OMIM:617982 OMIM:611553 ORPHA:1713 OMIM:618797 OMIM:300953 OMIM:619460 OMIM:268310 ORPHA:192 OMIM:607812 ORPHA:50814 OMIM:618106 ORPHA:798 OMIM:619056 OMIM:164210 OMIM:154400 ORPHA:245 OMIM:249420 ORPHA:137834 OMIM:222470 OMIM:619080 OMIM:619293 ORPHA:3051 OMIM:601358 OMIM:614609 OMIM:614608 OMIM:618779 OMIM:616938 OMIM:614501 OMIM:105830 ORPHA:177907 OMIM:610733 OMIM:618506 OMIM:619312 OMIM:619745 OMIM:619595 OMIM:136140 ORPHA:2044 OMIM:300934 ORPHA:370927 OMIM:617635 ORPHA:502434 OMIM:611087 ORPHA:500533 ORPHA:544254 OMIM:606003 OMIM:618950 ORPHA:2896 OMIM:610954 OMIM:154500 OMIM:619989 ORPHA:1394 OMIM:620075 OMIM:216360 ORPHA:1194 OMIM:618825 OMIM:617752 OMIM:618454 ORPHA:920 OMIM:200110 ORPHA:1231 OMIM:209885 OMIM:300860 ORPHA:163956 ORPHA:411511 ORPHA:98795 ORPHA:2707 ORPHA:466950 OMIM:618347 OMIM:251300 OMIM:619648 OMIM:618659 OMIM:616083 OMIM:617260 OMIM:619877 OMIM:619488 ORPHA:1827
 

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