Entry Search - 300651 305600 - OMIM
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Search: '300651 305600 (Search in: MIM number)'
Results: 2 entries.

1:
* 300651. PORCUPINE O-ACYLTRANSFERASE; PORCN
Cytogenetic location: Xp11.23, Genomic coordinates (GRCh38): X:48,508,992-48,520,814
Matching terms: 300651
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp11.23 Focal dermal hypoplasia 305600 XLD 3
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ICD+
SNOMEDCT: 205573006
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2:
# 305600. FOCAL DERMAL HYPOPLASIA; FDH
Cytogenetic location: Xp11.23
Matching terms: 305600
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xp11.23 Focal dermal hypoplasia 305600 XLD 3 PORCN 300651
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ICD+
SNOMEDCT: 205573006
ORPHA: 2092
DO: 2120
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Search: 300651 305600 (Search in: MIM number)
Results: 2 entries.

1:
* 300651. PORCUPINE O-ACYLTRANSFERASE; PORCN
Cytogenetic location: Xp11.23, Genomic coordinates (GRCh38): X:48,508,992-48,520,814
Matching terms: 300651

2:
# 305600. FOCAL DERMAL HYPOPLASIA; FDH
Cytogenetic location: Xp11.23
Matching terms: 305600


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025