Entry Search - 300216 300658 305390 310600 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '300216 300658 305390 310600 (Search in: MIM number)'
Results: 4 entries.

1:
* 300658. NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP
Cytogenetic location: Xp11.3, Genomic coordinates (GRCh38): X:43,948,776-43,973,390
Matching terms: 300658
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp11.3 Exudative vitreoretinopathy 2, X-linked 305390 XLD, XLR 3
Norrie disease 310600 XLR 3
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ICD+
SNOMEDCT: 15228007
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2:
300216. COATS DISEASE
Matching terms: 300216
► ICD+  ► Links 
ICD+
SNOMEDCT: 25506007, 360455002
ICD10CM: H35.02, H35.07
ICD9CM: 362.12
ORPHA: 190
DO: 7765
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3:
# 305390. EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2
Cytogenetic location: Xp11.3
Matching terms: 305390
► 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
Xp11.3 Exudative vitreoretinopathy 2, X-linked 305390 XLD, XLR 3 NDP 300658
▲ Close
ICD+
ORPHA: 891
DO: 0111413
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4:
# 310600. NORRIE DISEASE; ND
Cytogenetic location: Xp11.3
Matching terms: 310600
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xp11.3 Norrie disease 310600 XLR 3 NDP 300658
▲ Close
ICD+
SNOMEDCT: 15228007
ORPHA: 649
DO: 0060844
▲ Close
Search: 300216 300658 305390 310600 (Search in: MIM number)
Results: 4 entries.

1:
* 300658. NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP
Cytogenetic location: Xp11.3, Genomic coordinates (GRCh38): X:43,948,776-43,973,390
Matching terms: 300658

2:
300216. COATS DISEASE
Matching terms: 300216

3:
# 305390. EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2
Cytogenetic location: Xp11.3
Matching terms: 305390

4:
# 310600. NORRIE DISEASE; ND
Cytogenetic location: Xp11.3
Matching terms: 310600


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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