Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
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Abnormality of the nail (HP:0001597)help
..Starting node
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Thin nail (HP:0001816)help
Term ID: 1816
Name: Thin nail
Synonym: Thin nail; Thin nails
Definition: Nail that appears thin when viewed on end.
Comments:
Reference: HP:0001816
Genes and Diseases:
 
       Child Nodes:
........expandThin fingernail (HP:0012742) help
........expandThin toenail (HP:0012746) help

 Sister Nodes: 
..expandAbnormal fingernail morphology (HP:0001231) help
..expandAbnormal nail growth (HP:0030807) help
..expandAbnormal toenail morphology (HP:0008388) help
..expandAbnormality of nail color (HP:0100643) help
..expandAbnormality of the periungual region (HP:0100803) help
..expandAbnormality of the subungual region (HP:0009723) help
..expandAbsent lunula (HP:0030805) help
..expandAplasia/Hypoplasia of the nails (HP:0008386) help
..expandBeaked nails (HP:0030817) help
..expandChronic monilial nail infection (HP:0008396) help
..expandFragile nails (HP:0001808) help
..expandIngrown nail (HP:0012710) help
..expandNail bed hemorrhage (HP:0030254) help
..expandNail bed telangiectasia (HP:0001232) help
..expandNail dysplasia (HP:0002164) help
..expandNail dystrophy (HP:0008404) help
..expandNeoplasm of the nail (HP:0100826) help
..expandOnychogryposis (HP:0001805) help
..expandOnycholysis (HP:0001806) help
..expandPterygium of nails (HP:0002165) help
..expandPyramidal skinfold extending from the base to the top of the nails (HP:0009758) help
..expandRagged cuticle (HP:0030808) help
..expandRecurrent loss of toenails and fingernails (HP:0008390) help
..expandSki jump nail (HP:0030819) 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:0001816HP:0001816Thin nail0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional75
HP:0001816HP:0001816Thin nail0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional63
HP:0001816HP:0001816Thin nail0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0001816HP:0001816Thin nail0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001816HP:0001816Thin nail0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0001816HP:0001816Thin nail0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0001816HP:0001816Thin nail0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0001816HP:0001816Thin nail0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001816HP:0001816Thin nail0FZD6 CL E G H83234044OMIM:161050Nail disorder, nonsyndromic congenital, 1.3
HP:0001816HP:0001816Thin nail0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001816HP:0001816Thin nail0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0001816HP:0001816Thin nail0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0001816HP:0001816Thin nail0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndrome12
HP:0001816HP:0001816Thin nail0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0001816HP:0001816Thin nail0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0001816HP:0001816Thin nail0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0001816HP:0001816Thin nail0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0001816HP:0001816Thin nail0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0001816HP:0012742Thin fingernail1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0001816HP:0012746Thin toenail1MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12


Genes (15) :ALOX12B ALOXE3 ANAPC1 CAMK2B EED EZH2 FZD6 HRAS IFT122 MBTPS2 MSX1 NSD1 SUZ12 TRPS1 WNT10A

Diseases (14) :OMIM:242100 OMIM:618625 OMIM:617799 OMIM:617561 ORPHA:3447 OMIM:277590 OMIM:161050 OMIM:218040 OMIM:218330 ORPHA:2273 ORPHA:2228 OMIM:190350 OMIM:257980 OMIM:224750
 

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