Entry Search - 123000 605145 - OMIM
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Search: '123000 605145 (Search in: MIM number)'
Results: 2 entries.

1:
* 605145. ANKH INORGANIC PYROPHOSPHATE TRANSPORT REGULATOR; ANKH
Cytogenetic location: 5p15.2, Genomic coordinates (GRCh38): 5:14,704,800-14,871,778
Matching terms: 605145
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5p15.2 Chondrocalcinosis 2 118600 AD 3
Craniometaphyseal dysplasia 123000 AD 3
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2:
# 123000. CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
Cytogenetic location: 5p15.2
Matching terms: 123000
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
5p15.2 Craniometaphyseal dysplasia 123000 AD 3 ANKH 605145
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Craniometaphyseal dysplasia - PS123000 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
5p15.2 Craniometaphyseal dysplasia AD 3 123000 ANKH 605145
6q22.31 Craniometaphyseal dysplasia, autosomal recessive AR 3 218400 GJA1 121014
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ICD+
ORPHA: 1522
DO: 0080801
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Search: 123000 605145 (Search in: MIM number)
Results: 2 entries.

1:
* 605145. ANKH INORGANIC PYROPHOSPHATE TRANSPORT REGULATOR; ANKH
Cytogenetic location: 5p15.2, Genomic coordinates (GRCh38): 5:14,704,800-14,871,778
Matching terms: 605145

2:
# 123000. CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
Cytogenetic location: 5p15.2
Matching terms: 123000


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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