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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/129400
http://purl.bioontology.org/ontology/OMIM/129400
Preferred Name

RAPP-HODGKIN SYNDROME
Synonyms
RHS
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
RHS
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE
prefLabel
RAPP-HODGKIN SYNDROME
Gene Symbol
SHFM4
KET
TP63
EEC3
RHS
LMS
OFC8
TP73L
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notation
129400
Scope Statement
Caused by mutation in the tumor protein p63 gene (TP63, 603273.0007) [MOLECULAR BASIS]
Allelic to ADULT syndrome (103285), SHFM4 (605289), Hay-Wells syndrome (106260), and limb-mammary syndrome (603543) [MISCELLANEOUS]
Hyperthermia in early childhood [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU018488
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU036694
http://purl.bioontology.org/ontology/OMIM/MTHU018485
http://purl.bioontology.org/ontology/OMIM/MTHU002014
http://purl.bioontology.org/ontology/OMIM/MTHU003365
http://purl.bioontology.org/ontology/OMIM/MTHU018484
http://purl.bioontology.org/ontology/OMIM/MTHU018487
http://purl.bioontology.org/ontology/OMIM/MTHU018486
http://purl.bioontology.org/ontology/OMIM/MTHU036353
http://purl.bioontology.org/ontology/OMIM/MTHU005937
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU009613
http://purl.bioontology.org/ontology/OMIM/MTHU036385
http://purl.bioontology.org/ontology/OMIM/MTHU036337
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU002016
http://purl.bioontology.org/ontology/OMIM/MTHU006233
http://purl.bioontology.org/ontology/OMIM/MTHU004812
http://purl.bioontology.org/ontology/OMIM/MTHU015134
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU001507
http://purl.bioontology.org/ontology/OMIM/MTHU018483
http://purl.bioontology.org/ontology/OMIM/MTHU012780
http://purl.bioontology.org/ontology/OMIM/MTHU018489
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU002110
http://purl.bioontology.org/ontology/OMIM/MTHU036356
http://purl.bioontology.org/ontology/OMIM/MTHU006023
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
3q27
tui
T047
cui
C1785148
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