Entry Search - 273750 609577 610991 612921 614145 614205 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '273750 609577 610991 612921 614145 614205 (Search in: MIM number)'
Results: 6 entries.

1:
* 614145. COILED-COIL DOMAIN-CONTAINING PROTEIN 8; CCDC8
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:46,410,329-46,413,564
Matching terms: 614145
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
19q13.32 3-M syndrome 3 614205 AR 3
▲ Close

2:
# 273750. THREE M SYNDROME 1; 3M1
YAKUT SHORT STATURE SYNDROME, INCLUDED
Cytogenetic location: 6p21.1
Matching terms: 273750
► 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
6p21.1 3-M syndrome 1 273750 AR 3 CUL7 609577
▲ Close
Three M syndrome - PS273750 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2q35 3-M syndrome 2 AR 3 612921 OBSL1 610991
6p21.1 3-M syndrome 1 AR 3 273750 CUL7 609577
19q13.32 3-M syndrome 3 AR 3 614205 CCDC8 614145
▲ Close
ICD+
SNOMEDCT: 702342007
ORPHA: 2616
DO: 0060241
▲ Close

3:
* 609577. CULLIN 7; CUL7
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:43,037,617-43,053,851
Matching terms: 609577
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
6p21.1 3-M syndrome 1 273750 AR 3
▲ Close

4:
* 610991. OBSCURIN-LIKE 1; OBSL1
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:219,547,206-219,571,539
Matching terms: 610991
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2q35 3-M syndrome 2 612921 AR 3
▲ Close

5:
# 614205. THREE M SYNDROME 3; 3M3
Cytogenetic location: 19q13.32
Matching terms: 614205
► 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
19q13.32 3-M syndrome 3 614205 AR 3 CCDC8 614145
▲ Close
Three M syndrome - PS273750 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2q35 3-M syndrome 2 AR 3 612921 OBSL1 610991
6p21.1 3-M syndrome 1 AR 3 273750 CUL7 609577
19q13.32 3-M syndrome 3 AR 3 614205 CCDC8 614145
▲ Close
ICD+
ORPHA: 2616
DO: 0060241
▲ Close

6:
# 612921. THREE M SYNDROME 2; 3M2
Cytogenetic location: 2q35
Matching terms: 612921
► 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
2q35 3-M syndrome 2 612921 AR 3 OBSL1 610991
▲ Close
Three M syndrome - PS273750 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2q35 3-M syndrome 2 AR 3 612921 OBSL1 610991
6p21.1 3-M syndrome 1 AR 3 273750 CUL7 609577
19q13.32 3-M syndrome 3 AR 3 614205 CCDC8 614145
▲ Close
ICD+
ORPHA: 2616
DO: 0060241
▲ Close
Search: 273750 609577 610991 612921 614145 614205 (Search in: MIM number)
Results: 6 entries.

1:
* 614145. COILED-COIL DOMAIN-CONTAINING PROTEIN 8; CCDC8
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:46,410,329-46,413,564
Matching terms: 614145

2:
# 273750. THREE M SYNDROME 1; 3M1
YAKUT SHORT STATURE SYNDROME, INCLUDED
Cytogenetic location: 6p21.1
Matching terms: 273750

3:
* 609577. CULLIN 7; CUL7
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:43,037,617-43,053,851
Matching terms: 609577

4:
* 610991. OBSCURIN-LIKE 1; OBSL1
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:219,547,206-219,571,539
Matching terms: 610991

5:
# 614205. THREE M SYNDROME 3; 3M3
Cytogenetic location: 19q13.32
Matching terms: 614205

6:
# 612921. THREE M SYNDROME 2; 3M2
Cytogenetic location: 2q35
Matching terms: 612921


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.

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