JSON

ectodermal dysplasia 4, hair/nail type

Go to external page http://purl.obolibrary.org/obo/MONDO_0011177

Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: pure hair and nail ectodermal dysplasia caused by mutation in KRT85 KRT85 pure hair and nail ectodermal dysplasia ectodermal dysplasia 4, hair/nail type

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C566592 (MONDO:equivalentTo)
  • DOID:0111658 (MONDO:equivalentTo)
  • MEDGEN:870434 (MONDO:equivalentTo)
  • UMLS:C4024880 (MONDO:equivalentTo)
  • OMIM:602032 (MONDO:equivalentTo)
  • GARD:18062 (MONDO:GARD)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, mondo_top_grouping_integumentary_system_disorder, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_included, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, harrisons_view_integumentary_system_disorder, mondo_top_grouping_syndromic_disease

abbreviation
ECTD4 [ MONDO:Lexical ]

exactMatch

http://identifiers.org/mesh/C566592

http://linkedlifedata.com/resource/umls/id/C4024880

https://omim.org/entry/602032

http://identifiers.org/medgen/870434

http://purl.obolibrary.org/obo/DOID_0111658

has related synonym

twisted hair with nail dysplasias

pili torti onychodysplasia

ectodermal dysplasia, 'Pure' hair/nail type

ECTD4

id

MONDO:0011177