Entry Search - 308100 308700 302950 - OMIM
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Search: '308100 308700 302950 (Search in: MIM number)'
Results: 3 entries.

1:
# 308100. ICHTHYOSIS, X-LINKED; XLI
ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED
Cytogenetic location: Xp22.31
Matching terms: 308100
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xp22.31 Ichthyosis, X-linked 308100 XLR 3 STS 300747
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ICD+
SNOMEDCT: 3642008, 3944006, 72523005
ICD10CM: Q80.1
ORPHA: 281090, 461
DO: 1700
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2:
# 302950. CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
Cytogenetic location: Xp22.33
Matching terms: 302950
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xp22.33 Chondrodysplasia punctata, X-linked recessive 302950 XLR 3 ARSL 300180
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ICD+
SNOMEDCT: 778067002
ORPHA: 79345
DO: 0060292
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3:
# 308700. HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1
Cytogenetic location: Xp22.31
Matching terms: 308700
► 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
Xp22.31 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 XLR 3 ANOS1 300836
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Hypogonadotropic hypogonadism with or without anosmia - PS147950 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p13.1 ?Hypogonadotropic hypogonadism 27 without anosmia AR 3 619755 NHLH2 162361
1q32.1 ?Hypogonadotropic hypogonadism 13 with or without anosmia AR 3 614842 KISS1 603286
2q14.3 {Hypogonadotropic hypogonadism 15 with or without anosmia} AD 3 614880 HS6ST1 604846
3p14.3 Hypogonadotropic hypogonadism 18 with or without anosmia AD, AR, DD 3 615267 IL17RD 606807
3p13 Hypogonadotropic hypogonadism 4 with or without anosmia AD 3 610628 PROK2 607002
4q13.2 Hypogonadotropic hypogonadism 7 without anosmia AR 3 146110 GNRHR 138850
4q24 Hypogonadotropic hypogonadism 11 with or without anosmia AR 3 614840 TACR3 162332
4q27 Hypogonadotropic hypogonadism 25 with anosmia AD 3 618841 NDNF 616506
5q31.3 Hypogonadotropic hypogonadism 17 with or without anosmia AD 3 615266 SPRY4 607984
7q21.11 {Hypogonadotropic hypogonadism 16 with or without anosmia} AD 3 614897 SEMA3A 603961
7q31.32 Hypogonadotropic hypogonadism 22, with or without anosmia AR 3 616030 FEZF1 613301
8p21.3 Hypogonadotropic hypogonadism 20 with or without anosmia AD 3 615270 FGF17 603725
8p21.2 ?Hypogonadotropic hypogonadism 12 with or without anosmia AR 3 614841 GNRH1 152760
8p11.23 Hypogonadotropic hypogonadism 2 with or without anosmia AD 3 147950 FGFR1 136350
8q12.2 Hypogonadotropic hypogonadism 5 with or without anosmia AD 3 612370 CHD7 608892
9q34.3 Hypogonadotropic hypogonadism 9 with or without anosmia AD 3 614838 NSMF 608137
10q24.32 Hypogonadotropic hypogonadism 6 with or without anosmia AD 3 612702 FGF8 600483
10q26.12 Hypogonadotropic hypogonadism 14 with or without anosmia AD 3 614858 WDR11 606417
11p14.1 Hypogonadotropic hypogonadism 24 without anosmia AR 3 229070 FSHB 136530
12q13.3 Hypogonadotropic hypogonadism 10 with or without anosmia AR 3 614839 TAC3 162330
12q21.33 Hypogonadotropic hypogonadism 19 with or without anosmia AD 3 615269 DUSP6 602748
15q21.3 Hypogonadotropic hypogonadism 26 with or without anosmia AD, AR 3 619718 TCF12 600480
19p13.3 Hypogonadotropic hypogonadism 8 with or without anosmia AR 3 614837 KISS1R 604161
19q13.33 Hypogonadotropic hypogonadism 23 with or without anosmia AR 3 228300 LHB 152780
20p12.3 Hypogonadotropic hypogonadism 3 with or without anosmia AD 3 244200 PROKR2 607123
20p12.1 Hypogonadotropic hypogonadism 21 with anosmia AD 3 615271 FLRT3 604808
Xp22.31 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) XLR 3 308700 ANOS1 300836
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ICD+
SNOMEDCT: 93559003
ICD10CM: E23.0
ORPHA: 432, 478
DO: 0090094
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Search: 308100 308700 302950 (Search in: MIM number)
Results: 3 entries.

1:
# 308100. ICHTHYOSIS, X-LINKED; XLI
ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED
Cytogenetic location: Xp22.31
Matching terms: 308100

2:
# 302950. CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
Cytogenetic location: Xp22.33
Matching terms: 302950

3:
# 308700. HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1
Cytogenetic location: Xp22.31
Matching terms: 308700


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: June 12, 2024