Phenotype: Abnormality of the testis size (HP:0045058)
Associated genes and diseases:
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: MECP2
disease_id: ORPHA:3077
disease_name: X-linked intellectual disability-psychosis-macroorchidism syndrome
Lindsay-Burn syndrome
PPM-X
gene_symbol: RBMX
disease_id: OMIM:300238
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
gene_symbol: RBMX
disease_id: ORPHA:85286
disease_name: X-linked intellectual disability, Shashi type
Syndromic X-linked intellectual disability type 11
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: NF1
disease_id: ORPHA:139474
disease_name: 17q11.2 microduplication syndrome
Dup(17)(q11.2)
Grisart-Destrée syndrome
Trisomy 17q11.2
gene_symbol: FMR1
disease_id: ORPHA:908
disease_name: Fragile X syndrome
FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome
gene_symbol: TBC1D7
disease_id: ORPHA:2477
disease_name: Megalencephaly
Macroencephaly
gene_symbol: MED12
disease_id: OMIM:309520
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE
gene_symbol: MED12
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: LHCGR
disease_id: ORPHA:3000
disease_name: Familial peripheral male-limited precocious puberty
FMPP
Familial gonadotropin-independent male-limited sexual precocity
Male-limited precocious puberty
Testotoxicosis
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: ARX
disease_id: ORPHA:94083
disease_name: Partington syndrome
Partington-Mulley syndrome
X-linked intellectual disability-dystonia-dysarthria syndrome
gene_symbol: IL1RAPL1
disease_id: OMIM:300143
disease_name: MENTAL RETARDATION, X-LINKED 21
gene_symbol: CLIC2
disease_id: ORPHA:324410
disease_name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: AGA
disease_id: ORPHA:93
disease_name: Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
gene_symbol: ZDHHC9
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: UPF3B
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: CYP19A1
disease_id: ORPHA:91
disease_name: Aromatase deficiency
Congenital estrogen deficiency
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: FGFR1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: FGFR1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FGFR1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SPRY4
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: SPRY4
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SPRY4
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROKR2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: PROKR2
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: PROKR2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF8
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: FGF8
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FGF8
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROK2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: PROK2
disease_id: OMIM:610628
disease_name: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
gene_symbol: PROK2
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: PROK2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CHD7
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: CHD7
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: CHD7
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: TACR3
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: TACR3
disease_id: OMIM:614840
disease_name: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
gene_symbol: TACR3
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: TACR3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DUSP6
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: DUSP6
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: DUSP6
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: NSMF
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: NSMF
disease_id: OMIM:614838
disease_name: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
gene_symbol: NSMF
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: WDR11
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: WDR11
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: WDR11
disease_id: OMIM:614858
disease_name: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
gene_symbol: WDR11
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: NHLH2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: HS6ST1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: HS6ST1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: HS6ST1
disease_id: OMIM:614880
disease_name: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
gene_symbol: HS6ST1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: GNRH1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: GNRH1
disease_id: OMIM:614841
disease_name: HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA
gene_symbol: GNRH1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: GNRHR
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: GNRHR
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: KISS1R
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: KISS1R
disease_id: OMIM:614837
disease_name: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
gene_symbol: KISS1R
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: TAC3
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: TAC3
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FGF17
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: FGF17
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FGF17
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: KISS1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: KISS1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SOX9
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: SOX9
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: SOX9
disease_id: OMIM:616425
disease_name: 46,XY SEX REVERSAL 10
gene_symbol: SOX3
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: SOX3
disease_id: ORPHA:90695
disease_name: Non-acquired panhypopituitarism
Genetic panhypopituitarism
gene_symbol: NR5A1
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: NR5A1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR5A1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: SRY
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: SRY
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR0B1
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: NR0B1
disease_id: ORPHA:95702
disease_name: X-linked adrenal hypoplasia congenita
X-linked AHC
X-linked congenital adrenal hypoplasia
gene_symbol: NR0B1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: KCNJ6
disease_id: ORPHA:435628
disease_name: Keppen-Lubinsky syndrome
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: OGT
disease_id: OMIM:300997
disease_name: MENTAL RETARDATION, X-LINKED 106
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: SATB2
disease_id: ORPHA:251019
disease_name: 2q32q33 microdeletion syndrome
Del(2)(q32)
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32q33
gene_symbol: MCM8
disease_id: OMIM:612885
disease_name: PREMATURE OVARIAN FAILURE 10
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: FBN1
disease_id: ORPHA:284979
disease_name: Neonatal Marfan syndrome
Neonatal MFS
gene_symbol: TSPY1
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DAZ2
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DAZ4
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: USP9Y
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: RBMY1A1
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DAZ3
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DDX3Y
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DAZ1
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: PQBP1
disease_id: ORPHA:93950
disease_name: X-linked intellectual disability, Sutherland-Haan type
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: CTDP1
disease_id: OMIM:604168
disease_name: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
gene_symbol: HDAC8
disease_id: OMIM:300882
disease_name: CORNELIA DE LANGE SYNDROME 5
gene_symbol: FSHB
disease_id: ORPHA:52901
disease_name: Isolated follicle stimulating hormone deficiency
Isolated FSH deficiency
gene_symbol: FSHB
disease_id: OMIM:229070
disease_name: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA
gene_symbol: CYP11B1
disease_id: OMIM:202010
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
gene_symbol: CEP112
disease_id: OMIM:619044
disease_name: SPERMATOGENIC FAILURE 44
gene_symbol: ZPR1
disease_id: OMIM:619321
disease_name: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
gene_symbol: CYB5A
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: CYP17A1
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: DNAJC19
disease_id: OMIM:610198
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE V
gene_symbol: CDKN1C
disease_id: ORPHA:436144
disease_name: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: RPL10L
disease_id: OMIM:619689
disease_name: SPERMATOGENIC FAILURE 63
gene_symbol: RPL10L
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: LEP
disease_id: ORPHA:66628
disease_name: Obesity due to congenital leptin deficiency
gene_symbol: LEP
disease_id: OMIM:614962
disease_name: LEPTIN DEFICIENCY OR DYSFUNCTION
gene_symbol: HSD3B2
disease_id: ORPHA:90791
disease_name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
gene_symbol: TYMS
disease_id: OMIM:620040
disease_name: DYSKERATOSIS CONGENITA, DIGENIC
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: FANCM
disease_id: OMIM:618086
disease_name: SPERMATOGENIC FAILURE 28
gene_symbol: FANCM
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
gene_symbol: RSPO1
disease_id: OMIM:610644
disease_name: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
gene_symbol: CUL7
disease_id: OMIM:273750
disease_name: THREE M SYNDROME 1
gene_symbol: TOGARAM1
disease_id: OMIM:619185
disease_name: JOUBERT SYNDROME 37
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: DMXL2
disease_id: OMIM:616113
disease_name: POLYENDOCRINE-POLYNEUROPATHY SYNDROME
gene_symbol: DMXL2
disease_id: ORPHA:453533
disease_name: Polyendocrine-polyneuropathy syndrome
gene_symbol: TEX15
disease_id: OMIM:617960
disease_name: SPERMATOGENIC FAILURE 25
gene_symbol: TEX15
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: CCDC141
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: CCDC141
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SEMA3E
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SRA1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: AXL
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SOX10
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SOX10
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FEZF1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FEZF1
disease_id: OMIM:616030
disease_name: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
gene_symbol: FEZF1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SEMA3A
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SEMA3A
disease_id: OMIM:614897
disease_name: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
gene_symbol: SEMA3A
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: ANOS1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: ANOS1
disease_id: OMIM:308700
disease_name: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA
gene_symbol: ANOS1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: TBC1D20
disease_id: OMIM:615663
disease_name: WARBURG MICRO SYNDROME 4
gene_symbol: LEPR
disease_id: ORPHA:179494
disease_name: Obesity due to leptin receptor gene deficiency
gene_symbol: VAMP7
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WWOX
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: MAP3K1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WT1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZFPM2
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: GATA4
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: THOC2
disease_id: ORPHA:457240
disease_name: X-linked intellectual disability-short stature-overweight syndrome
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: RNF113A
disease_id: OMIM:300953
disease_name: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
gene_symbol: RAB18
disease_id: OMIM:614222
disease_name: WARBURG MICRO SYNDROME 3
gene_symbol: PROP1
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: PROP1
disease_id: ORPHA:90695
disease_name: Non-acquired panhypopituitarism
Genetic panhypopituitarism
gene_symbol: GLI2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: LHX4
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: FOXA2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: POU1F1
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: HESX1
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: HESX1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: OTX2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: B4GAT1
disease_id: OMIM:615287
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
gene_symbol: PHGDH
disease_id: OMIM:601815
disease_name: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
gene_symbol: PNLDC1
disease_id: OMIM:619528
disease_name: SPERMATOGENIC FAILURE 57
gene_symbol: PNLDC1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: POLA1
disease_id: ORPHA:163976
disease_name: X-linked intellectual disability, Van Esch type
gene_symbol: TAF4B
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: XRCC2
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: XRCC2
disease_id: OMIM:619145
disease_name: SPERMATOGENIC FAILURE 50
gene_symbol: MEIOB
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: STAG3
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: TERB2
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: CT55
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: MSH5
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: TERB1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: SOHLH1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: TEX11
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: DNHD1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: CFTR
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: SYCP3
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: RNF212
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: MOV10L1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: TEX14
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: CCDC34
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: CATIP
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: GCNA
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: DNAH10
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: KLHL10
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: SPAG17
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: ZMYND15
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: TDRD9
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: SYCE1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: NANOS1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: FBXO43
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: SHOC1
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: PDHA2
disease_id: ORPHA:399805
disease_name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: KDM5C
disease_id: ORPHA:85279
disease_name: KDM5C-related syndromic X-linked intellectual disability
gene_symbol: MBTPS2
disease_id: ORPHA:85284
disease_name: BRESEK syndrome
BRESHECK syndrome
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: PHF8
disease_id: ORPHA:85287
disease_name: X-linked intellectual disability, Siderius type
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
gene_symbol: DCAF17
disease_id: OMIM:241080
disease_name: WOODHOUSE-SAKATI SYNDROME
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: FAM111A
disease_id: ORPHA:93325
disease_name: Autosomal dominant Kenny-Caffey syndrome
gene_symbol: FLRT3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: NDNF
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DCC
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: IL17RD
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DHX37
disease_id: ORPHA:983
disease_name: Testicular regression syndrome
ETRS
Embryonic testicular regression syndrome
TRS
Vanishing testes syndrome
Vanishing testis syndrome
XY gonadal agenesis syndrome
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: GDF6
disease_id: OMIM:613094
disease_name: MICROPHTHALMIA, ISOLATED 4