Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/617011
http://purl.bioontology.org/ontology/OMIM/617011
Preferred Name

MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
Synonyms
MDFPMR
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MDFPMR
prefLabel
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
Gene Symbol
HERC1
MDFPMR
Scope Statement
Onset at birth [MISCELLANEOUS]
Caused by mutation in the HECT domain and RCC1-like domain 1 gene (HERC1, 605109.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU014950
http://purl.bioontology.org/ontology/OMIM/MTHU055621
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU055620
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU001150
http://purl.bioontology.org/ontology/OMIM/MTHU000229
http://purl.bioontology.org/ontology/OMIM/MTHU036555
http://purl.bioontology.org/ontology/OMIM/MTHU002113
http://purl.bioontology.org/ontology/OMIM/MTHU000258
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU001452
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU043102
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU001601
http://purl.bioontology.org/ontology/OMIM/MTHU002499
http://purl.bioontology.org/ontology/OMIM/MTHU033932
http://purl.bioontology.org/ontology/OMIM/MTHU035437
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU025399
http://purl.bioontology.org/ontology/OMIM/MTHU007320
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU001148
http://purl.bioontology.org/ontology/OMIM/MTHU033525
http://purl.bioontology.org/ontology/OMIM/MTHU001151
http://purl.bioontology.org/ontology/OMIM/MTHU003806
http://purl.bioontology.org/ontology/OMIM/MTHU002089
http://purl.bioontology.org/ontology/OMIM/MTHU002761
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU002088
http://purl.bioontology.org/ontology/OMIM/MTHU003604
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU055619
http://purl.bioontology.org/ontology/OMIM/MTHU000710
http://purl.bioontology.org/ontology/OMIM/MTHU003493
http://purl.bioontology.org/ontology/OMIM/MTHU017317
http://purl.bioontology.org/ontology/OMIM/MTHU000264
http://purl.bioontology.org/ontology/OMIM/MTHU038606
http://purl.bioontology.org/ontology/OMIM/MTHU059097
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU055622
http://purl.bioontology.org/ontology/OMIM/MTHU006858
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU001173
http://purl.bioontology.org/ontology/OMIM/MTHU004934
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tui
T047
Gene Locus
15q22.31
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
617011
Semantic type UMLS property
Has inheritance type
cui
C4310766
OMIM Entry Type
3
OMIM MimType Value
pound
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