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WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060179 Renpenning syndrome Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
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1 Ontology

Name
Disease Ontology

12 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: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:0060037 developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
DOID:150 disease of mental health A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
DOID:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0080012 X-linked recessive disease A X-linked monogenic disease that has_material_basis_in recessive inheritance.
DOID:0060309 syndromic X-linked intellectual disability A syndromic intellectual disability characterized by an X-linked inheritance pattern.
DOID:1059 intellectual disability A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
DOID:0050888 syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
DOID:0060038 specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
DOID:0060179 Renpenning syndrome An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.

11 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0080012 DOID:0060179
is_a DOID:0060309 DOID:0060179
is_a DOID:0060037 DOID:0060179
is_a DOID:0050735 DOID:0060179
is_a DOID:0050888 DOID:0060179
is_a DOID:4 DOID:0060179
is_a DOID:150 DOID:0060179
is_a DOID:0060038 DOID:0060179
is_a DOID:1059 DOID:0060179
is_a DOID:0050177 DOID:0060179
is_a DOID:630 DOID:0060179

7 Synonyms

Name Type
Sutherland-Haan X-linked mental retardation syndrome synonym
syndromic X-linked mental retardation 8 synonym
X-linked intellectual disability due to PQBP1 mutations synonym
X-linked intellectual disability, Renpenning type synonym
X-linked mental retardation Renpenning type synonym
X-linked mental retardation with spastic diplegia synonym
Golabi-Ito-Hall syndrome synonym