WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111647 Schopf-Schulz-Passarge syndrome Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35.
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1 Ontology

Name
Disease Ontology

8 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:2121 ectodermal dysplasia A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
DOID:0111647 Schopf-Schulz-Passarge syndrome An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35.

7 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:2121 DOID:0111647
is_a DOID:0050736 DOID:0111647
is_a DOID:4 DOID:0111647
is_a DOID:630 DOID:0111647
is_a DOID:0050177 DOID:0111647
is_a DOID:225 DOID:0111647
is_a DOID:0050739 DOID:0111647

5 Synonyms

Name Type
eccrine tumors-ectodermal dysplasia synonym
keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome synonym
palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome synonym
palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome synonym
SSPS synonym