Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Localized skin lesion (HP:0011355)help
..Starting node
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Skin dimple (HP:0010781)help
Term ID: 10781
Name: Skin dimple
Synonym: Skin dimples
Definition: Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.
Comments:
Reference: HP:0010781
Genes and Diseases:
 
       Child Nodes:
........expandSacral dimple (HP:0000960) help
........expandSkin dimple over apex of long bone angulation (HP:0001024) help
........expandShoulder dimples (HP:0010782) help
........expandHand dimples (HP:0040251) help

 Sister Nodes: 
..expandAbnormal perifollicular morphology (HP:0031285) help
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAplasia/Hypoplasia of the skin (HP:0008065) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMacule (HP:0012733) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin erosion (HP:0200041) help
..expandSkin fissure (HP:0031057) help
..expandSkin nodule (HP:0200036) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin tags (HP:0010609) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
..expandXanthomatosis (HP:0000991) 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:0010781HP:0010781Skin dimple0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0010781HP:0010781Skin dimple0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0010781HP:0010781Skin dimple0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood126
HP:0010781HP:0010781Skin dimple0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile126
HP:0010781HP:0010781Skin dimple0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0010781HP:0010781Skin dimple0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010781HP:0010781Skin dimple0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0010781HP:0010781Skin dimple0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0010781HP:0010781Skin dimple0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0010781HP:0010781Skin dimple0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0010781HP:0010781Skin dimple0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0010781HP:0010781Skin dimple0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0010781HP:0010781Skin dimple0CCL2 CL E G H634710618OMIM:182940Neural tube defects, susceptibility to3
HP:0010781HP:0010781Skin dimple0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0010781HP:0010781Skin dimple0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0010781HP:0010781Skin dimple0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0010781HP:0010781Skin dimple0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0010781HP:0010781Skin dimple0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0010781HP:0010781Skin dimple0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0010781HP:0010781Skin dimple0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0010781HP:0010781Skin dimple0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0010781HP:0010781Skin dimple0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0010781HP:0010781Skin dimple0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0010781HP:0010781Skin dimple0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0010781HP:0010781Skin dimple0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0010781HP:0010781Skin dimple0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 2433
HP:0010781HP:0010781Skin dimple0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0010781HP:0010781Skin dimple0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0010781HP:0010781Skin dimple0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0010781HP:0010781Skin dimple0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0010781HP:0010781Skin dimple0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0010781HP:0010781Skin dimple0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0010781HP:0010781Skin dimple0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0010781HP:0010781Skin dimple0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0010781HP:0010781Skin dimple0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0010781HP:0010781Skin dimple0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0010781HP:0010781Skin dimple0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0010781HP:0010781Skin dimple0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0010781HP:0010781Skin dimple0EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040282 - Frequent3
HP:0010781HP:0010781Skin dimple0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0010781HP:0010781Skin dimple0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0010781HP:0010781Skin dimple0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0010781HP:0010781Skin dimple0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0010781HP:0010781Skin dimple0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0010781HP:0010781Skin dimple0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0010781HP:0010781Skin dimple0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0FUZ CL E G H8019926219OMIM:182940Neural tube defects, susceptibility to3
HP:0010781HP:0010781Skin dimple0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0010781HP:0010781Skin dimple0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010781HP:0010781Skin dimple0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0010781HP:0010781Skin dimple0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0010781HP:0010781Skin dimple0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0010781HP:0010781Skin dimple0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0010781HP:0010781Skin dimple0H4C5 CL E G H83674790OMIM:619950
HP:0010781HP:0010781Skin dimple0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0010781HP:0010781Skin dimple0HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0010781HP:0010781Skin dimple0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome8
HP:0010781HP:0010781Skin dimple0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0010781HP:0010781Skin dimple0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0010781HP:0010781Skin dimple0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0010781HP:0010781Skin dimple0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0010781HP:0010781Skin dimple0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0010781HP:0010781Skin dimple0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0010781HP:0010781Skin dimple0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0010781HP:0010781Skin dimple0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0010781HP:0010781Skin dimple0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0010781HP:0010781Skin dimple0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0010781HP:0010781Skin dimple0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0010781HP:0010781Skin dimple0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0010781HP:0010781Skin dimple0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0010781HP:0010781Skin dimple0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010781HP:0010781Skin dimple0MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0010781HP:0010781Skin dimple0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0010781HP:0010781Skin dimple0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0010781HP:0010781Skin dimple0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0010781HP:0010781Skin dimple0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0010781HP:0010781Skin dimple0NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0010781HP:0010781Skin dimple0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0010781HP:0010781Skin dimple0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0010781HP:0010781Skin dimple0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0010781HP:0010781Skin dimple0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0010781HP:0010781Skin dimple0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0010781HP:0010781Skin dimple0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0010781HP:0010781Skin dimple0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0010781HP:0010781Skin dimple0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0010781HP:0010781Skin dimple0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0010781HP:0010781Skin dimple0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0010781HP:0010781Skin dimple0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0010781HP:0010781Skin dimple0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0010781HP:0010781Skin dimple0PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0010781HP:0010781Skin dimple0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0010781HP:0010781Skin dimple0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0010781HP:0010781Skin dimple0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0010781HP:0010781Skin dimple0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0010781HP:0010781Skin dimple0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010781HP:0010781Skin dimple0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0010781HP:0010781Skin dimple0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0010781HP:0010781Skin dimple0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0010781HP:0010781Skin dimple0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0010781HP:0010781Skin dimple0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0010781HP:0010781Skin dimple0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0010781HP:0010781Skin dimple0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0010781HP:0010781Skin dimple0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0010781HP:0010781Skin dimple0SMG9 CL E G H5600625763OMIM:6199952
HP:0010781HP:0010781Skin dimple0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0010781HP:0010781Skin dimple0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040282 - Frequent109
HP:0010781HP:0010781Skin dimple0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0010781HP:0010781Skin dimple0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 38
HP:0010781HP:0010781Skin dimple0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0010781HP:0010781Skin dimple0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0010781HP:0010781Skin dimple0TBXT CL E G H686211515OMIM:182940Neural tube defects, susceptibility to
HP:0010781HP:0010781Skin dimple0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0010781HP:0010781Skin dimple0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0010781HP:0010781Skin dimple0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0010781HP:0010781Skin dimple0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0010781HP:0010781Skin dimple0VANGL1 CL E G H8183915512OMIM:182940Neural tube defects, susceptibility to111
HP:0010781HP:0010781Skin dimple0VANGL2 CL E G H5721615511OMIM:182940Neural tube defects, susceptibility to2
HP:0010781HP:0010781Skin dimple0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0010781HP:0010781Skin dimple0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010781HP:0010781Skin dimple0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0010781HP:0010781Skin dimple0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0010781HP:0010781Skin dimple0YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0010781HP:0010781Skin dimple0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0010781HP:0010781Skin dimple0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0010781HP:0040251Hand dimple1 CL E G H
HP:0010781HP:0000960Sacral dimple1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0010781HP:0000960Sacral dimple1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0010781HP:0001024Skin dimple over apex of long bone angulation1ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0010781HP:0001024Skin dimple over apex of long bone angulation1ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0010781HP:0000960Sacral dimple1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0010781HP:0000960Sacral dimple1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010781HP:0000960Sacral dimple1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0010781HP:0000960Sacral dimple1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0010781HP:0000960Sacral dimple1B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0010781HP:0000960Sacral dimple1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0010781HP:0000960Sacral dimple1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0010781HP:0000960Sacral dimple1CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0010781HP:0000960Sacral dimple1CCL2 CL E G H634710618OMIM:182940Neural tube defects, susceptibility to.3
HP:0010781HP:0000960Sacral dimple1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0010781HP:0000960Sacral dimple1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0010781HP:0000960Sacral dimple1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0010781HP:0000960Sacral dimple1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0010781HP:0000960Sacral dimple1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0010781HP:0000960Sacral dimple1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0010781HP:0000960Sacral dimple1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0010781HP:0000960Sacral dimple1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0010781HP:0000960Sacral dimple1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0010781HP:0000960Sacral dimple1CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0010781HP:0000960Sacral dimple1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0010781HP:0000960Sacral dimple1DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24HP:0040283 - Occasional33
HP:0010781HP:0000960Sacral dimple1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0010781HP:0000960Sacral dimple1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0010781HP:0000960Sacral dimple1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0010781HP:0000960Sacral dimple1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0010781HP:0000960Sacral dimple1DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0010781HP:0000960Sacral dimple1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0010781HP:0000960Sacral dimple1DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0010781HP:0000960Sacral dimple1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0010781HP:0000960Sacral dimple1EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0010781HP:0000960Sacral dimple1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0010781HP:0000960Sacral dimple1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0010781HP:0000960Sacral dimple1FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0010781HP:0000960Sacral dimple1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0010781HP:0000960Sacral dimple1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0010781HP:0000960Sacral dimple1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0010781HP:0000960Sacral dimple1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1FUZ CL E G H8019926219OMIM:182940Neural tube defects, susceptibility to.3
HP:0010781HP:0000960Sacral dimple1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0010781HP:0000960Sacral dimple1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010781HP:0010782Shoulder dimple1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0010781HP:0000960Sacral dimple1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010781HP:0000960Sacral dimple1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010781HP:0000960Sacral dimple1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010781HP:0000960Sacral dimple1H4C5 CL E G H83674790OMIM:619950
HP:0010781HP:0000960Sacral dimple1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0010781HP:0000960Sacral dimple1HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional
HP:0010781HP:0000960Sacral dimple1HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0010781HP:0000960Sacral dimple1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040283 - Occasional11
HP:0010781HP:0000960Sacral dimple1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0010781HP:0000960Sacral dimple1KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0010781HP:0000960Sacral dimple1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0010781HP:0000960Sacral dimple1KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0010781HP:0000960Sacral dimple1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0010781HP:0000960Sacral dimple1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0010781HP:0000960Sacral dimple1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0010781HP:0000960Sacral dimple1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0010781HP:0000960Sacral dimple1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0010781HP:0000960Sacral dimple1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0010781HP:0000960Sacral dimple1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040283 - Occasional144
HP:0010781HP:0000960Sacral dimple1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0010781HP:0000960Sacral dimple1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010781HP:0000960Sacral dimple1MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0010781HP:0000960Sacral dimple1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0010781HP:0000960Sacral dimple1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0010781HP:0000960Sacral dimple1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010781HP:0000960Sacral dimple1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010781HP:0000960Sacral dimple1NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0010781HP:0000960Sacral dimple1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0010781HP:0000960Sacral dimple1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0010781HP:0000960Sacral dimple1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0010781HP:0000960Sacral dimple1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0010781HP:0000960Sacral dimple1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0010781HP:0000960Sacral dimple1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0010781HP:0000960Sacral dimple1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0010781HP:0000960Sacral dimple1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0010781HP:0000960Sacral dimple1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0010781HP:0000960Sacral dimple1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0010781HP:0000960Sacral dimple1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0010781HP:0000960Sacral dimple1PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional231
HP:0010781HP:0000960Sacral dimple1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0010781HP:0000960Sacral dimple1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0010781HP:0000960Sacral dimple1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0010781HP:0000960Sacral dimple1PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0010781HP:0000960Sacral dimple1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010781HP:0000960Sacral dimple1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0010781HP:0000960Sacral dimple1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0010781HP:0000960Sacral dimple1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0010781HP:0000960Sacral dimple1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0010781HP:0000960Sacral dimple1SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0010781HP:0000960Sacral dimple1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0010781HP:0000960Sacral dimple1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0010781HP:0000960Sacral dimple1SMG9 CL E G H5600625763OMIM:6199952
HP:0010781HP:0032538Pretibial dimple1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0010781HP:0000960Sacral dimple1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0010781HP:0000960Sacral dimple1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 3HP:0040283 - Occasional8
HP:0010781HP:0000960Sacral dimple1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0010781HP:0000960Sacral dimple1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0010781HP:0000960Sacral dimple1TBXT CL E G H686211515OMIM:182940Neural tube defects, susceptibility to.
HP:0010781HP:0000960Sacral dimple1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0010781HP:0000960Sacral dimple1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0010781HP:0000960Sacral dimple1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0010781HP:0000960Sacral dimple1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0010781HP:0000960Sacral dimple1VANGL1 CL E G H8183915512OMIM:182940Neural tube defects, susceptibility to.111
HP:0010781HP:0000960Sacral dimple1VANGL2 CL E G H5721615511OMIM:182940Neural tube defects, susceptibility to.2
HP:0010781HP:0000960Sacral dimple1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010781HP:0000960Sacral dimple1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010781HP:0000960Sacral dimple1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0010781HP:0000960Sacral dimple1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0010781HP:0000960Sacral dimple1YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional14
HP:0010781HP:0000960Sacral dimple1ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0010781HP:0000960Sacral dimple1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (114) :AEBP1 AFF3 ALPL ANK1 ARID1B ASXL1 B3GLCT B9D2 BAP1 BAZ1B BCL7B BUD23 CAMK2G CAPN15 CCL2 CD96 CDK10 CLIP2 COL25A1 COLEC10 COX7B CPLX1 CTBP1 CTCF DCHS1 DEAF1 DHCR7 DHPS DNAJC30 DPAGT1 DVL1 DVL3 DYRK1A EBP EIF4H ELN EPHB4 ERGIC1 EXTL3 FANCB FANCF FAT4 FGFRL1 FKBP6 FUZ FZD2 GNB2 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCCS HIC1 HNRNPK HOXA13 KANSL1 KCNK9 KIF15 KMT2A LETM1 LIFR LIG4 LIMK1 MAN2C1 MASP1 MED12 METTL27 MLXIPL NADSYN1 NCAPG2 NCF1 NDUFB11 NELFA NSD2 NSUN2 NXN ODC1 OTUD6B PAFAH1B1 PIGG POLA1 PRR12 PSMD12 RAB23 RFC2 RMRP ROR2 RPL10 SCARF2 SCYL2 SETD5 SHANK3 SMG9 SOX9 SPOP STX1A SUGCT TAF1 TBL2 TBX4 TBXT TCF4 TMCO1 TMEM270 USP9X VANGL1 VANGL2 VPS37D WLS WNT5A YWHAE ZIC3 ZNF699

Diseases (90) :ORPHA:536532 OMIM:619297 OMIM:241510 OMIM:241500 ORPHA:251066 OMIM:135900 OMIM:605039 ORPHA:709 OMIM:614175 OMIM:619762 ORPHA:904 OMIM:618522 OMIM:619318 OMIM:182940 ORPHA:1308 OMIM:617694 ORPHA:1143 OMIM:248340 ORPHA:2556 ORPHA:280 OMIM:194190 ORPHA:363611 OMIM:615502 OMIM:601390 OMIM:615828 OMIM:270400 OMIM:618480 OMIM:608093 ORPHA:86309 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:268261 ORPHA:401973 ORPHA:90186 ORPHA:508533 OMIM:314390 OMIM:603467 OMIM:615546 OMIM:619503 ORPHA:96182 OMIM:619950 ORPHA:531 OMIM:616580 ORPHA:2438 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:612292 ORPHA:166108 ORPHA:261323 OMIM:605130 ORPHA:319182 ORPHA:3206 ORPHA:235 OMIM:619775 OMIM:257920 ORPHA:93932 OMIM:305450 OMIM:618845 OMIM:618460 OMIM:619695 ORPHA:1507 ORPHA:544488 ORPHA:505237 OMIM:617452 OMIM:301030 OMIM:619539 OMIM:617516 OMIM:201000 ORPHA:175 ORPHA:459070 OMIM:600920 OMIM:615761 ORPHA:48652 OMIM:606232 OMIM:619995 OMIM:114290 ORPHA:140 OMIM:618828 ORPHA:35706 OMIM:300966 ORPHA:261279 OMIM:610954 OMIM:213980 OMIM:300968 ORPHA:480880 OMIM:619648 OMIM:619488
 

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