Entry Search - 102700 608958 - OMIM
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Search: '102700 608958 (Search in: MIM number)'
Results: 2 entries.

1:
* 608958. ADENOSINE DEAMINASE; ADA
Cytogenetic location: 20q13.12, Genomic coordinates (GRCh38): 20:44,619,522-44,651,699
Matching terms: 608958
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
20q13.12 Adenosine deaminase deficiency, partial 102700 AR, SMo 3
Severe combined immunodeficiency due to ADA deficiency 102700 AR, SMo 3
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2:
# 102700. SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED
Cytogenetic locations: 20q13.12,
Matching terms: 102700
► 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
20q13.12 Severe combined immunodeficiency due to ADA deficiency 102700 AR, SMo 3 ADA 608958
20q13.12 Adenosine deaminase deficiency, partial 102700 AR, SMo 3 ADA 608958
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Severe combined immunodeficiency (select examples) - PS601457 - 19 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p35.1 Reticular dysgenesis AR 3 267500 AK2 103020
1q31.3-q32.1 Immunodeficiency 105, severe combined AR 3 619924 PTPRC 151460
2q35 Immunodeficiency 124, severe combined AR 3 611291 NHEJ1 611290
5p13.2 Immunodeficiency 104, severe combined AR 3 608971 IL7R 146661
10p13 Severe combined immunodeficiency, Athabascan type AR 3 602450 DCLRE1C 605988
10p13 Omenn syndrome AR 3 603554 DCLRE1C 605988
11p12 Severe combined immunodeficiency, B cell-negative AR 3 601457 RAG1 179615
11p12 Omenn syndrome AR 3 603554 RAG1 179615
11p12 Severe combined immunodeficiency, B cell-negative AR 3 601457 RAG2 179616
11p12 Omenn syndrome AR 3 603554 RAG2 179616
11q23.3 Immunodeficiency 18, SCID variant AR 3 615615 CD3E 186830
11q23.3 Immunodeficiency 18 AR 3 615615 CD3E 186830
11q23.3 Immunodeficiency 19, severe combined AR 3 615617 CD3D 186790
14q32.2 Immunodeficiency 49, severe combined AD 3 617237 BCL11B 606558
16p13.13 MHC class II deficiency 1 AR 3 209920 CIITA 600005
19p13.11 Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type AR 3 600802 JAK3 600173
20q13.12 Severe combined immunodeficiency due to ADA deficiency AR, SMo 3 102700 ADA 608958
20q13.12 Adenosine deaminase deficiency, partial AR, SMo 3 102700 ADA 608958
Xq13.1 Severe combined immunodeficiency, X-linked XLR 3 300400 IL2RG 308380
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ICD+
SNOMEDCT: 22406001
ICD10CM: D81.31
ORPHA: 277
DO: 5810
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Search: 102700 608958 (Search in: MIM number)
Results: 2 entries.

1:
* 608958. ADENOSINE DEAMINASE; ADA
Cytogenetic location: 20q13.12, Genomic coordinates (GRCh38): 20:44,619,522-44,651,699
Matching terms: 608958

2:
# 102700. SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED
Cytogenetic locations: 20q13.12,
Matching terms: 102700


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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