Entry Search - 109135 136350 138850 146110 147950 152760 162330 162332 244200 300836 308700 600483 602229 602748 603286 603725 603819 603961 604161 604808 604846 606417 606807 607002 607123 607984 608137 608166 608892 610628 612370 612702 613301 614366 614381 614837 614838 614839 614840 614841 614842 614858 614880 614897 615266 615267 615269 615270 615271 616030 616031

Search: '109135 136350 138850 146110 147950 152760 162330 162332 244200 300836 308700 600483 602229 602748 603286 603725 603819 603961 604161 604808 604846 606417 606807 607002 607123 607984 608137 608166 608892 610628 612370 612702 613301 614366 614381 614837 614838 614839 614840 614841 614842 614858 614880 614897 615266 615267 615269 615270 615271 616030 616031 (Search in: MIM number)'

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* 109135. AXL RECEPTOR TYROSINE KINASE; AXL
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:41,219,223-41,261,766
Matching terms: 109135
► Links

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

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* 608892. CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7
Cytogenetic location: 8q12.2, Genomic coordinates (GRCh38): 8:60,678,740-60,868,028
Matching terms: 608892
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q12.2	CHARGE syndrome	214800	AD	3
8q12.2	Hypogonadotropic hypogonadism 5 with or without anosmia	612370	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene OMIA Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 47535005

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# 612370. HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5
Cytogenetic location: 8q12.2
Matching terms: 612370
► 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
8q12.2	Hypogonadotropic hypogonadism 5 with or without anosmia	612370	AD	3	CHD7	608892

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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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Links
Testing GTR EuroGentest Normosmic congenital hypog… Kallmann syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Normosmic congenital hypog… Kallmann syndrome Gene Reviews CHD7 Disorder Isolated Gonadotropin-Rele… Genetic Alliance GTR GARD Kallmann syndrome Hypogonadotropic hypogonad… OrphaNet Normosmic congenital hypog… Kallmann syndrome	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
ORPHA: 432, 478 DO: 0090084

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# 612702. HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6
Cytogenetic location: 10q24.32
Matching terms: 612702
► 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
10q24.32	Hypogonadotropic hypogonadism 6 with or without anosmia	612702	AD	3	FGF8	600483

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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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Links
Testing GTR EuroGentest Normosmic congenital hypog… Kallmann syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Normosmic congenital hypog… Kallmann syndrome Gene Reviews Genetic Alliance GTR GARD Kallmann syndrome Hypogonadotropic hypogonad… OrphaNet Normosmic congenital hypog… Kallmann syndrome	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
ORPHA: 432, 478 DO: 0090086

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* 613301. FEZ FAMILY ZINC FINGER PROTEIN 1; FEZF1
Cytogenetic location: 7q31.32, Genomic coordinates (GRCh38): 7:122,301,303-122,310,723
Matching terms: 613301
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q31.32	Hypogonadotropic hypogonadism 22, with or without anosmia	616030	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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# 610628. HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4
Cytogenetic location: 3p13
Matching terms: 610628
► 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
3p13	Hypogonadotropic hypogonadism 4 with or without anosmia	610628	AD	3	PROK2	607002

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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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Links
Testing GTR EuroGentest Normosmic congenital hypog… Kallmann syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Normosmic congenital hypog… Kallmann syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD Kallmann syndrome Hypogonadotropic hypogonad… OrphaNet Normosmic congenital hypog… Kallmann syndrome	Animal Models MGI Mouse Phenotype NCBI HomoloGene

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ICD+
ORPHA: 432, 478 DO: 0090077

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* 614366. POLYMERASE III, RNA, SUBUNIT B; POLR3B
Cytogenetic location: 12q23.3, Genomic coordinates (GRCh38): 12:106,357,748-106,510,198
Matching terms: 614366
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q23.3	Charcot-Marie-Tooth disease, demyelinating, type 1I	619742	AD	3
12q23.3	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 614381. LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
Cytogenetic location: 12q23.3
Matching terms: 614381
► 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
12q23.3	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	AR	3	POLR3B	614366

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Leukodystrophy, hypomyelinating - PS312080 - 27 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.1	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	AR	3	619688	RNF220	616136
1q41	Leukodystrophy, hypomyelinating, 15	AR	3	617951	EPRS	138295
1q42.11	Leukodystrophy, hypomyelinating, 18	AR	3	618404	DEGS1	615843
1q42.12	Leukodystrophy, hypomyelinating, 19, transient infantile	AD	3	618688	TMEM63A	618685
1q42.12	Leukodystrophy, hypomyelinating, 10	AR	3	616420	PYCR2	616406
1q42.13	Leukodystrophy, hypomyelinating, 2	AR	3	608804	GJC2	608803
2p11.2	Leukodystrophy, hypomyelinating, 27	AR	3	620675	POLR1A	616404
2q21.3	Leukodystrophy, hypomyelinating, 25	AD	3	620243	TMEM163	618978
2q33.1	Leukodystrophy, hypomyelinating, 4	AR	3	612233	HSPD1	118190
3q26.2	Leukodystrophy, hypomyelinating, 22	AD	3	619328	CLDN11	601326
4q24	Leukodystrophy, hypomyelinating, 3	AR	3	260600	AIMP1	603605
5q34	Leukodystrophy, hypomyelinating, 9	AR	3	616140	RARS1	107820
6p21.1	Leukodystrophy, hypomyelinating, 11	AR	3	616494	POLR1C	610060
6p21.1	Leukodystrophy, hypomyelinating, 26, with chondrodysplasia	AR	3	620269	SLC35B2	610788
7p22.1	Leukodystrophy, hypomyelinating, 17	AR	3	618006	AIMP2	600859
7p21.3	Leukodystrophy, hypomyelinating, 16	AD	3	617964	TMEM106B	613413
7p15.3	Leukodystrophy, hypomyelinating, 5	AR	3	610532	HYCC1	610531
10q22.3	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	AR	3	607694	POLR3A	614258
11q14.2	Leukodystrophy, hypomyelinating, 13	AR	3	616881	HIKESHI	614908
11q23.3	Leukodystrophy, hypomyelinating, 12	AR	3	616683	VPS11	608549
12q23.3	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	AR	3	614381	POLR3B	614366
13q13.3	Leukodystrophy, hypomyelinating, 14	AR	3	617899	UFM1	610553
13q34	?Leukodystrophy, hypomyelinating, 24	AD	3	619851	ATP11A	605868
16p13.3	Leukodystrophy, hypomyelinating, 21	AR	3	619310	POLR3K	606007
17q21.2	?Leukodystrophy, hypomyelinating, 20	AR	3	619071	CNP	123830
19p13.3	Leukodystrophy, hypomyelinating, 6	AD	3	612438	TUBB4A	602662
Xq22.2	Pelizaeus-Merzbacher disease	XLR	3	312080	PLP1	300401

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Links
Testing GTR EuroGentest Endosteal sclerosis-cerebe… Hypomyelination-hypogonado…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Endosteal sclerosis-cerebe… Hypomyelination-hypogonado… Gene Reviews Isolated Gonadotropin-Rele… POLR3-Related Leukodystrop… MedlinePlus Genetics GTR OrphaNet Endosteal sclerosis-cerebe… Hypomyelination-hypogonado…	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
ORPHA: 85186, 88637 DO: 0060797

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# 146110. HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
Cytogenetic location: 4q13.2
Matching terms: 146110
► 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
4q13.2	Hypogonadotropic hypogonadism 7 without anosmia	146110	AR	3	GNRHR	138850

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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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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
SNOMEDCT: 123953004 ORPHA: 432 DO: 0090078

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10:

# 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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Links
Testing GTR EuroGentest Normosmic congenital hypog… Kallmann syndrome	Protein HPRD UniProt	Clinical Resources Clinical Trials EuroGentest Normosmic congenital hypog… Kallmann syndrome Gene Reviews Genetic Alliance GTR GARD Kallmann syndrome Hypogonadotropic hypogonad… OrphaNet Normosmic congenital hypog… Kallmann syndrome POSSUM	Variation Locus Specific DBs	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 93559003 ICD10CM: E23.0 ORPHA: 432, 478 DO: 0090094

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Search: 109135 136350 138850 146110 147950 152760 162330 162332 244200 300836 308700 600483 602229 602748 603286 603725 603819 603961 604161 604808 604846 606417 606807 607002 607123 607984 608137 608166 608892 610628 612370 612702 613301 614366 614381 614837 614838 614839 614840 614841 614842 614858 614880 614897 615266 615267 615269 615270 615271 616030 616031 (Search in: MIM number)

Results: 51 entries.

* 109135. AXL RECEPTOR TYROSINE KINASE; AXL
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:41,219,223-41,261,766
Matching terms: 109135

* 608892. CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7
Cytogenetic location: 8q12.2, Genomic coordinates (GRCh38): 8:60,678,740-60,868,028
Matching terms: 608892

# 612370. HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5
Cytogenetic location: 8q12.2
Matching terms: 612370

# 612702. HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6
Cytogenetic location: 10q24.32
Matching terms: 612702

* 613301. FEZ FAMILY ZINC FINGER PROTEIN 1; FEZF1
Cytogenetic location: 7q31.32, Genomic coordinates (GRCh38): 7:122,301,303-122,310,723
Matching terms: 613301

# 610628. HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4
Cytogenetic location: 3p13
Matching terms: 610628

* 614366. POLYMERASE III, RNA, SUBUNIT B; POLR3B
Cytogenetic location: 12q23.3, Genomic coordinates (GRCh38): 12:106,357,748-106,510,198
Matching terms: 614366

# 614381. LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
Cytogenetic location: 12q23.3
Matching terms: 614381

# 146110. HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
Cytogenetic location: 4q13.2
Matching terms: 146110

10:

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

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Printed: May 15, 2024