Human Phenotype Ontology 
Grandparent Node:
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Aplastic/hypoplastic toenail (HP:0010624)help
Grandparent Node:
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Small nail (HP:0001792)help
Parent Node:
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Hypoplastic toenails (HP:0001800)help
..Starting node
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Hypoplastic fifth toenail (HP:0011937)help
Term ID: 11937
Name: Hypoplastic fifth toenail
Synonym: Small fifth toenail; Underdeveloped fifth toenail
Definition: Underdeveloped nails of the fifth toes.
Comments:
Reference: HP:0011937
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011937HP:0011937Hypoplastic fifth toenail0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0011937HP:0011937Hypoplastic fifth toenail0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0011937HP:0011937Hypoplastic fifth toenail0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0011937HP:0011937Hypoplastic fifth toenail0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0011937HP:0011937Hypoplastic fifth toenail0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0011937HP:0011937Hypoplastic fifth toenail0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040282 - Frequent11
HP:0011937HP:0011937Hypoplastic fifth toenail0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0011937HP:0011937Hypoplastic fifth toenail0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0011937HP:0011937Hypoplastic fifth toenail0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0011937HP:0011937Hypoplastic fifth toenail0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0011937HP:0011937Hypoplastic fifth toenail0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0011937HP:0011937Hypoplastic fifth toenail0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0011937HP:0011937Hypoplastic fifth toenail0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0011937HP:0011937Hypoplastic fifth toenail0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0011937HP:0011937Hypoplastic fifth toenail0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0011937HP:0011937Hypoplastic fifth toenail0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0011937HP:0011937Hypoplastic fifth toenail0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent


Genes (15) :ARID1A ARID1B ARID2 DPF2 HOXA13 KRT5 PPP2R5D SET SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4

Diseases (7) :ORPHA:1465 OMIM:618027 ORPHA:2438 OMIM:131960 ORPHA:457279 OMIM:618106 OMIM:615866
 

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