Entry Search - 300011 300489 304150 309400 - OMIM
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Search: '300011 300489 304150 309400 (Search in: MIM number)'
Results: 4 entries.

1:
* 300011. ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
Cytogenetic location: Xq21.1, Genomic coordinates (GRCh38): X:77,910,693-78,050,395
Matching terms: 300011
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq21.1 Menkes disease 309400 XLR 3
Neuronopathy, distal hereditary motor, X-linked 300489 XLR 3
Occipital horn syndrome 304150 XLR 3
▲ Close
ICD+
SNOMEDCT: 59178007, 59399004, 766764008
▲ Close

2:
# 304150. OCCIPITAL HORN SYNDROME; OHS
Cytogenetic location: Xq21.1
Matching terms: 304150
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq21.1 Occipital horn syndrome 304150 XLR 3 ATP7A 300011
▲ Close
ICD+
SNOMEDCT: 59399004
ORPHA: 198
DO: 0111272
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3:
# 309400. MENKES DISEASE; MNK
Cytogenetic location: Xq21.1
Matching terms: 309400
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq21.1 Menkes disease 309400 XLR 3 ATP7A 300011
▲ Close
ICD+
SNOMEDCT: 59178007
ORPHA: 565
DO: 1838
▲ Close

4:
# 300489. NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; HMNX
Cytogenetic location: Xq21.1
Matching terms: 300489
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq21.1 Neuronopathy, distal hereditary motor, X-linked 300489 XLR 3 ATP7A 300011
▲ Close
ICD+
SNOMEDCT: 766764008
ORPHA: 139557
DO: 0111196
▲ Close
Search: 300011 300489 304150 309400 (Search in: MIM number)
Results: 4 entries.

1:
* 300011. ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
Cytogenetic location: Xq21.1, Genomic coordinates (GRCh38): X:77,910,693-78,050,395
Matching terms: 300011

2:
# 304150. OCCIPITAL HORN SYNDROME; OHS
Cytogenetic location: Xq21.1
Matching terms: 304150

3:
# 309400. MENKES DISEASE; MNK
Cytogenetic location: Xq21.1
Matching terms: 309400

4:
# 300489. NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; HMNX
Cytogenetic location: Xq21.1
Matching terms: 300489


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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 12, 2025