Human Phenotype Ontology 
Grandparent Node:
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Abnormal labia morphology (HP:0000058)help
Grandparent Node:
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Hypoplastic female external genitalia (HP:0012815)help
Parent Node:
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Abnormal labia majora morphology (HP:0012881)help
Parent Node:
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Labial hypoplasia (HP:0000066)help
..Starting node
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Hypoplastic labia majora (HP:0000059)help
Term ID: 59
Name: Hypoplastic labia majora
Synonym: Hypoplasia of labia majora; Small labia majora; Underdeveloped vaginal lips
Definition: Undergrowth of the outer labia.
Comments:
Reference: HP:0000059
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplastic labia minora (HP:0000064) 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:0000059HP:0000059Hypoplastic labia majora0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000059HP:0000059Hypoplastic labia majora0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000059HP:0000059Hypoplastic labia majora0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent9
HP:0000059HP:0000059Hypoplastic labia majora0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent31
HP:0000059HP:0000059Hypoplastic labia majora0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent50
HP:0000059HP:0000059Hypoplastic labia majora0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000059HP:0000059Hypoplastic labia majora0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000059HP:0000059Hypoplastic labia majora0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000059HP:0000059Hypoplastic labia majora0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000059HP:0000059Hypoplastic labia majora0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5DHP:0040283 - Occasional37
HP:0000059HP:0000059Hypoplastic labia majora0ESR2 CL E G H21003468OMIM:618187Ovarian dysgenesis 8.
HP:0000059HP:0000059Hypoplastic labia majora0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0000059HP:0000059Hypoplastic labia majora0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000059HP:0000059Hypoplastic labia majora0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0000059HP:0000059Hypoplastic labia majora0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000059HP:0000059Hypoplastic labia majora0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000059HP:0000059Hypoplastic labia majora0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent3
HP:0000059HP:0000059Hypoplastic labia majora0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000059HP:0000059Hypoplastic labia majora0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000059HP:0000059Hypoplastic labia majora0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040282 - Frequent99
HP:0000059HP:0000059Hypoplastic labia majora0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0000059HP:0000059Hypoplastic labia majora0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000059HP:0000059Hypoplastic labia majora0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000059HP:0000059Hypoplastic labia majora0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent53
HP:0000059HP:0000059Hypoplastic labia majora0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000059HP:0000059Hypoplastic labia majora0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent21
HP:0000059HP:0000059Hypoplastic labia majora0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 2.21
HP:0000059HP:0000059Hypoplastic labia majora0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent39
HP:0000059HP:0000059Hypoplastic labia majora0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0000059HP:0000059Hypoplastic labia majora0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000059HP:0000059Hypoplastic labia majora0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000059HP:0000059Hypoplastic labia majora0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000059HP:0000059Hypoplastic labia majora0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000059HP:0000059Hypoplastic labia majora0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000059HP:0000059Hypoplastic labia majora0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000059HP:0000059Hypoplastic labia majora0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000059HP:0000059Hypoplastic labia majora0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000059HP:0000059Hypoplastic labia majora0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000059HP:0000059Hypoplastic labia majora0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndromeHP:0040283 - Occasional174
HP:0000059HP:0000059Hypoplastic labia majora0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000059HP:0000059Hypoplastic labia majora0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0000059HP:0000059Hypoplastic labia majora0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000059HP:0000059Hypoplastic labia majora0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0000059HP:0000059Hypoplastic labia majora0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0000059HP:0000059Hypoplastic labia majora0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000059HP:0000059Hypoplastic labia majora0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98


Genes (37) :B3GLCT BRD4 CDC45 CDC6 CDT1 CTCF DVL1 DVL3 ECEL1 ESR2 FGFR2 FIG4 FZD2 GAD1 GMNN HDAC8 IRF6 NIPBL ORC1 ORC4 ORC6 POR PPP2R3C RAB3GAP2 RAD21 RIPK4 ROR2 SETBP1 SLC25A24 SMC1A SMC3 SMCHD1 TP63 TWIST2 UBE3B VAC14 WNT5A

Diseases (29) :OMIM:261540 ORPHA:199 ORPHA:2554 ORPHA:363611 ORPHA:3107 OMIM:180700 OMIM:615065 OMIM:618187 OMIM:207410 OMIM:123790 ORPHA:3472 OMIM:619124 OMIM:616835 ORPHA:1300 OMIM:119500 OMIM:122470 OMIM:224690 OMIM:613800 OMIM:618419 OMIM:614225 OMIM:263650 OMIM:268310 OMIM:269150 OMIM:612289 OMIM:603457 OMIM:129400 OMIM:200110 OMIM:209885 OMIM:244450
 

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