Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the hairline (HP:0009553)help
Parent Node:
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Abnormality of the neck (HP:0000464)help
Parent Node:
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Abnormality of the posterior hairline (HP:0030141)help
..Starting node
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Low posterior hairline (HP:0002162)help
Term ID: 2162
Name: Low posterior hairline
Synonym: Low hairline at back of neck; Low posterior hair line
Definition: Hair on the neck extends more inferiorly than usual.
Comments:
Reference: HP:0002162
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHigh posterior hairline (HP:0012891) 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:0002162HP:0002162Low posterior hairline0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent254
HP:0002162HP:0002162Low posterior hairline0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent72
HP:0002162HP:0002162Low posterior hairline0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0002162HP:0002162Low posterior hairline0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent123
HP:0002162HP:0002162Low posterior hairline0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0002162HP:0002162Low posterior hairline0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0002162HP:0002162Low posterior hairline0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII.50
HP:0002162HP:0002162Low posterior hairline0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0002162HP:0002162Low posterior hairline0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0002162HP:0002162Low posterior hairline0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0002162HP:0002162Low posterior hairline0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040283 - Occasional3179
HP:0002162HP:0002162Low posterior hairline0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0002162HP:0002162Low posterior hairline0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0002162HP:0002162Low posterior hairline0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0002162HP:0002162Low posterior hairline0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0002162HP:0002162Low posterior hairline0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0002162HP:0002162Low posterior hairline0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0002162HP:0002162Low posterior hairline0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0002162HP:0002162Low posterior hairline0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0002162HP:0002162Low posterior hairline0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0002162HP:0002162Low posterior hairline0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0002162HP:0002162Low posterior hairline0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0002162HP:0002162Low posterior hairline0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040282 - Frequent317
HP:0002162HP:0002162Low posterior hairline0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0002162HP:0002162Low posterior hairline0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002162HP:0002162Low posterior hairline0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002162HP:0002162Low posterior hairline0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040282 - Frequent35
HP:0002162HP:0002162Low posterior hairline0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0002162HP:0002162Low posterior hairline0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0002162HP:0002162Low posterior hairline0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002162HP:0002162Low posterior hairline0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0002162HP:0002162Low posterior hairline0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0002162HP:0002162Low posterior hairline0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002162HP:0002162Low posterior hairline0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0002162HP:0002162Low posterior hairline0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0002162HP:0002162Low posterior hairline0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002162HP:0002162Low posterior hairline0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0002162HP:0002162Low posterior hairline0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0002162HP:0002162Low posterior hairline0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002162HP:0002162Low posterior hairline0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0002162HP:0002162Low posterior hairline0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0002162HP:0002162Low posterior hairline0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent7
HP:0002162HP:0002162Low posterior hairline0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent64
HP:0002162HP:0002162Low posterior hairline0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0002162HP:0002162Low posterior hairline0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0002162HP:0002162Low posterior hairline0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002162HP:0002162Low posterior hairline0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0002162HP:0002162Low posterior hairline0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0002162HP:0002162Low posterior hairline0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0002162HP:0002162Low posterior hairline0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002162HP:0002162Low posterior hairline0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0002162HP:0002162Low posterior hairline0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent23
HP:0002162HP:0002162Low posterior hairline0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002162HP:0002162Low posterior hairline0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0002162HP:0002162Low posterior hairline0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0002162HP:0002162Low posterior hairline0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040282 - Frequent196
HP:0002162HP:0002162Low posterior hairline0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0002162HP:0002162Low posterior hairline0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0002162HP:0002162Low posterior hairline0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040282 - Frequent43
HP:0002162HP:0002162Low posterior hairline0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0002162HP:0002162Low posterior hairline0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002162HP:0002162Low posterior hairline0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040282 - Frequent63
HP:0002162HP:0002162Low posterior hairline0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0002162HP:0002162Low posterior hairline0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0002162HP:0002162Low posterior hairline0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0002162HP:0002162Low posterior hairline0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0002162HP:0002162Low posterior hairline0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0002162HP:0002162Low posterior hairline0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent5
HP:0002162HP:0002162Low posterior hairline0MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive.5
HP:0002162HP:0002162Low posterior hairline0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0002162HP:0002162Low posterior hairline0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional166
HP:0002162HP:0002162Low posterior hairline0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0002162HP:0002162Low posterior hairline0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0002162HP:0002162Low posterior hairline0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0002162HP:0002162Low posterior hairline0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0002162HP:0002162Low posterior hairline0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040282 - Frequent40
HP:0002162HP:0002162Low posterior hairline0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0002162HP:0002162Low posterior hairline0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0002162HP:0002162Low posterior hairline0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040282 - Frequent144
HP:0002162HP:0002162Low posterior hairline0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040282 - Frequent102
HP:0002162HP:0002162Low posterior hairline0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0002162HP:0002162Low posterior hairline0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0002162HP:0002162Low posterior hairline0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0002162HP:0002162Low posterior hairline0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0002162HP:0002162Low posterior hairline0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002162HP:0002162Low posterior hairline0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome.23
HP:0002162HP:0002162Low posterior hairline0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040283 - Occasional23
HP:0002162HP:0002162Low posterior hairline0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0002162HP:0002162Low posterior hairline0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0002162HP:0002162Low posterior hairline0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0002162HP:0002162Low posterior hairline0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0002162HP:0002162Low posterior hairline0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040281 - Very frequent9
HP:0002162HP:0002162Low posterior hairline0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0002162HP:0002162Low posterior hairline0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040282 - Frequent291
HP:0002162HP:0002162Low posterior hairline0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0002162HP:0002162Low posterior hairline0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent90
HP:0002162HP:0002162Low posterior hairline0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent135
HP:0002162HP:0002162Low posterior hairline0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0002162HP:0002162Low posterior hairline0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0002162HP:0002162Low posterior hairline0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040282 - Frequent212
HP:0002162HP:0002162Low posterior hairline0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040282 - Frequent3
HP:0002162HP:0002162Low posterior hairline0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040282 - Frequent39
HP:0002162HP:0002162Low posterior hairline0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1
HP:0002162HP:0002162Low posterior hairline0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0002162HP:0002162Low posterior hairline0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040282 - Frequent1
HP:0002162HP:0002162Low posterior hairline0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040282 - Frequent86
HP:0002162HP:0002162Low posterior hairline0SCNM1 CL E G H7900523136OMIM:620107
HP:0002162HP:0002162Low posterior hairline0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040281 - Very frequent74
HP:0002162HP:0002162Low posterior hairline0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0002162HP:0002162Low posterior hairline0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0002162HP:0002162Low posterior hairline0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002162HP:0002162Low posterior hairline0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0002162HP:0002162Low posterior hairline0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0002162HP:0002162Low posterior hairline0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040282 - Frequent315
HP:0002162HP:0002162Low posterior hairline0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040282 - Frequent30
HP:0002162HP:0002162Low posterior hairline0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0002162HP:0002162Low posterior hairline0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0002162HP:0002162Low posterior hairline0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0002162HP:0002162Low posterior hairline0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0002162HP:0002162Low posterior hairline0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0002162HP:0002162Low posterior hairline0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040282 - Frequent5
HP:0002162HP:0002162Low posterior hairline0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0002162HP:0002162Low posterior hairline0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040282 - Frequent6
HP:0002162HP:0002162Low posterior hairline0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0002162HP:0002162Low posterior hairline0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0002162HP:0002162Low posterior hairline0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0002162HP:0002162Low posterior hairline0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0002162HP:0002162Low posterior hairline0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002162HP:0002162Low posterior hairline0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002162HP:0002162Low posterior hairline0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0002162HP:0002162Low posterior hairline0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002162HP:0002162Low posterior hairline0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040283 - Occasional5
HP:0002162HP:0002162Low posterior hairline0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome.5
HP:0002162HP:0002162Low posterior hairline0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (109) :ABCC9 ACTB ACTG1 AEBP1 AGPAT2 ALDOA ALG12 ALG9 ANKRD11 APC ARHGEF2 B3GAT3 BRAF BRD4 BSCL2 CAV1 CAVIN1 CBL CCDC22 CDH2 CDK13 CHN1 CHRNG CHST3 CNOT3 CPLX1 CREBBP CTBP1 EDEM3 EFNB1 EP300 FGFRL1 FOS GDF3 GDF6 GNE H3-3A HDAC8 HUWE1 IGF1 INTU IRX5 KCNJ8 KDM4B KNSTRN KRAS LETM1 LZTR1 MADD MAFB MAP2K1 MAP2K2 MAPK1 MBD5 MEOX1 MRAS MYH3 MYO18B NANS NELFA NF1 NFIX NIPBL NOTCH3 NRAS NSD2 PEPD PGAP1 PHF8 PIGG PIK3C2A PIK3CD PPARG PPP1CB PTPN11 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RASA2 RIT1 RPS28 RRAS RRAS2 SALL4 SCNM1 SHOC2 SLC25A24 SMARCA2 SMARCD1 SMC1A SMC3 SOS1 SOS2 SPRED1 SPRED2 SRCAP SRY TBX15 TFAP2A TMCO1 UBE2A USB1 VPS33A VPS51 WASHC5 WBP11 XYLT2 ZNF699

Diseases (85) :ORPHA:1517 ORPHA:2995 OMIM:243310 OMIM:618000 ORPHA:528 OMIM:611881 ORPHA:79324 ORPHA:79328 OMIM:148050 ORPHA:261584 OMIM:617523 OMIM:245600 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:199 ORPHA:648 OMIM:300963 OMIM:618929 OMIM:617360 ORPHA:233 ORPHA:2990 OMIM:618672 ORPHA:280 OMIM:194190 OMIM:180849 OMIM:619493 ORPHA:1520 OMIM:304110 ORPHA:2345 OMIM:118100 OMIM:269921 OMIM:619720 OMIM:309590 ORPHA:73272 OMIM:617925 OMIM:611174 OMIM:619320 ORPHA:221139 OMIM:605275 OMIM:619004 OMIM:619087 OMIM:156200 OMIM:214300 OMIM:616549 OMIM:610442 OMIM:601321 ORPHA:420179 OMIM:122470 ORPHA:2789 OMIM:613224 OMIM:170100 OMIM:615802 OMIM:300263 ORPHA:85287 OMIM:618440 ORPHA:2701 OMIM:617506 ORPHA:1387 OMIM:212720 OMIM:606164 OMIM:620107 OMIM:612289 OMIM:601358 OMIM:618779 OMIM:611431 OMIM:619745 OMIM:136140 ORPHA:1772 ORPHA:93333 OMIM:113620 ORPHA:1394 OMIM:213980 OMIM:300860 ORPHA:163956 OMIM:604173 OMIM:617303 OMIM:618606 OMIM:220210 OMIM:619227 ORPHA:85194 OMIM:605822 OMIM:619488
 

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