Human Phenotype Ontology 
Grandparent Node:
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Anonychia (HP:0001798)help
Parent Node:
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Absent fingernail (HP:0001817)help
..Starting node
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Absent thumbnail (HP:0012554)help
Term ID: 12554
Name: Absent thumbnail
Synonym:
Definition: Absence of thumb nail.
Comments:
Reference: HP:0012554
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent fifth fingernail (HP:0200104) 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:0012554HP:0012554Absent thumbnail0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0012554HP:0012554Absent thumbnail0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0012554HP:0012554Absent thumbnail0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0012554HP:0012554Absent thumbnail0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0012554HP:0012554Absent thumbnail0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0012554HP:0012554Absent thumbnail0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0012554HP:0012554Absent thumbnail0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0012554HP:0012554Absent thumbnail0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0012554HP:0012554Absent thumbnail0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0012554HP:0012554Absent thumbnail0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0012554HP:0012554Absent thumbnail0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0012554HP:0012554Absent thumbnail0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare
HP:0012554HP:0012554Absent thumbnail0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare2
HP:0012554HP:0012554Absent thumbnail0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0012554HP:0012554Absent thumbnail0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare244
HP:0012554HP:0012554Absent thumbnail0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare126
HP:0012554HP:0012554Absent thumbnail0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare427
HP:0012554HP:0012554Absent thumbnail0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare11
HP:0012554HP:0012554Absent thumbnail0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0012554HP:0012554Absent thumbnail0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare1


Genes (19) :ARX ATP6V1B2 CASK CDKL5 DMXL2 GNAO1 GRIN1 GRM7 KCNA1 KCNH1 NEUROD2 PIGP PIGQ PNKP SCN1B SCN2A SIK1 SLC25A22 TRIM8

Diseases (4) :ORPHA:1934 ORPHA:79499 OMIM:124480 OMIM:611816
 

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