Phenotype: Abnormality of hair pigmentation (HP:0009887)
Associated genes and diseases:
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
gene_symbol: AP3D1
disease_id: OMIM:617050
disease_name: HERMANSKY-PUDLAK SYNDROME 10
gene_symbol: WDR45
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: LRMDA
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: HPS4
disease_id: OMIM:614073
disease_name: HERMANSKY-PUDLAK SYNDROME 4
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: DTNBP1
disease_id: OMIM:614076
disease_name: HERMANSKY-PUDLAK SYNDROME 7
gene_symbol: PEPD
disease_id: ORPHA:742
disease_name: Prolidase deficiency
Hyperimidodipeptiduria
gene_symbol: SPRTN
disease_id: OMIM:616200
disease_name: RUIJS-AALFS SYNDROME
gene_symbol: TERT
disease_id: OMIM:614742
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
gene_symbol: TERT
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERT
disease_id: OMIM:613989
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
gene_symbol: TERT
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: TERT
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: TERC
disease_id: OMIM:614743
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
gene_symbol: TERC
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERC
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
gene_symbol: DKC1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: DKC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: RECQL4
disease_id: OMIM:268400
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 2
gene_symbol: ATM
disease_id: ORPHA:100
disease_name: Ataxia-telangiectasia
Louis-Bar syndrome
gene_symbol: MYO5A
disease_id: ORPHA:33445
disease_name: Neuroectodermal melanolysosomal disease
Elejalde neuroectodermal melanolysosomal disease
gene_symbol: MYO5A
disease_id: ORPHA:79476
disease_name: Griscelli syndrome type 1
Griscelli-Pruniéras syndrome type 1
Hypopigmentation-neurologic impairment syndrome
gene_symbol: STN1
disease_id: OMIM:617341
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: PARN
disease_id: OMIM:616371
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
gene_symbol: PARN
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: PARN
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: MITF
disease_id: OMIM:193510
disease_name: WAARDENBURG SYNDROME, TYPE 2A
gene_symbol: MITF
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: MITF
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: SOX10
disease_id: OMIM:613266
disease_name: WAARDENBURG SYNDROME, TYPE 4C
gene_symbol: SOX10
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: SOX10
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: SOX10
disease_id: ORPHA:163746
disease_name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Neurologic Waardenburg-Shah syndrome
PCWH
WS4 plus
gene_symbol: SOX10
disease_id: OMIM:611584
disease_name: WAARDENBURG SYNDROME, TYPE 2E
gene_symbol: EDN3
disease_id: OMIM:613265
disease_name: WAARDENBURG SYNDROME, TYPE 4B
gene_symbol: EDN3
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: RPA1
disease_id: OMIM:619767
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
gene_symbol: EDNRB
disease_id: OMIM:277580
disease_name: WAARDENBURG SYNDROME, TYPE 4A
gene_symbol: EDNRB
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: EDNRB
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: TINF2
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TINF2
disease_id: OMIM:613990
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
gene_symbol: TINF2
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: TINF2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: TYR
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: SNAI2
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: KITLG
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: KITLG
disease_id: OMIM:619947
disease_name: WAARDENBURG SYNDROME, TYPE 2F
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: ORPHA:363618
disease_name: LMNA-related cardiocutaneous progeria syndrome
LCPS
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: PAX3
disease_id: ORPHA:894
disease_name: Waardenburg syndrome type 1
WS1
Waardenburg syndrome type I
gene_symbol: PAX3
disease_id: OMIM:193500
disease_name: WAARDENBURG SYNDROME, TYPE 1
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: MDM2
disease_id: OMIM:618681
disease_name: LESSEL-KUBISCH SYNDROME
gene_symbol: TTI1
disease_id: OMIM:620445
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
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: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: POT1
disease_id: OMIM:620367
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8
gene_symbol: RTEL1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: RTEL1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: ACD
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: NAF1
disease_id: OMIM:620365
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: TFAP2A
disease_id: ORPHA:1297
disease_name: Branchio-oculo-facial syndrome
BOFS
gene_symbol: MTAP
disease_id: OMIM:112250
disease_name: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NHP2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: USB1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: WRAP53
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NPM1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NOP10
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TYMS
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: SLC5A6
disease_id: OMIM:619903
disease_name: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
gene_symbol: RAB27A
disease_id: ORPHA:79477
disease_name: Griscelli syndrome type 2
Griscelli-Pruniéras syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: TYRP1
disease_id: ORPHA:79433
disease_name: Oculocutaneous albinism type 3
OCA3
Red oculocutaneous albinism
Rufous oculocutaneous albinism
Xanthous oculocutaneous albinism
gene_symbol: KIT
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: MLPH
disease_id: OMIM:609227
disease_name: GRISCELLI SYNDROME, TYPE 3
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: SLC17A5
disease_id: OMIM:269920
disease_name: INFANTILE SIALIC ACID STORAGE DISEASE
gene_symbol: SLC24A5
disease_id: OMIM:113750
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VI
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: TP63
disease_id: OMIM:103285
disease_name: ADULT SYNDROME
gene_symbol: ABCA2
disease_id: OMIM:618808
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: PCSK1
disease_id: ORPHA:71528
disease_name: Obesity due to prohormone convertase I deficiency
PCI deficiency
gene_symbol: PRKAR1A
disease_id: OMIM:160980
disease_name: CARNEY COMPLEX, TYPE 1
gene_symbol: PDE4D
disease_id: OMIM:614613
disease_name: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: POMC
disease_id: OMIM:609734
disease_name: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR
gene_symbol: POMC
disease_id: ORPHA:71526
disease_name: Obesity due to pro-opiomelanocortin deficiency
POMC deficiency
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: CLCN7
disease_id: OMIM:618541
disease_name: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
gene_symbol: HPS1
disease_id: OMIM:203300
disease_name: HERMANSKY-PUDLAK SYNDROME 1
gene_symbol: FGFR3
disease_id: ORPHA:53271
disease_name: Muenke syndrome
gene_symbol: LRPPRC
disease_id: ORPHA:70472
disease_name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
COX deficiency, French-Canadian type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency
gene_symbol: GJB6
disease_id: ORPHA:189
disease_name: Hidrotic ectodermal dysplasia
Clouston syndrome
gene_symbol: HPS3
disease_id: OMIM:614072
disease_name: HERMANSKY-PUDLAK SYNDROME 3
gene_symbol: DCT
disease_id: OMIM:619165
disease_name: OCULOCUTANEOUS ALBINISM, TYPE VIII
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: PAH
disease_id: ORPHA:79254
disease_name: Classic phenylketonuria
Classic PKU
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: 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:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: SNRPN
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
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: 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:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
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: 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:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: UBE3A
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: UBE3A
disease_id: ORPHA:98795
disease_name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
UPD(15)pat
gene_symbol: UBE3A
disease_id: ORPHA:411511
disease_name: Angelman syndrome due to a point mutation
gene_symbol: UBE3A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: KRT71
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: KRT74
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: LIPH
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: LPAR6
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: KRT25
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: SLC45A2
disease_id: OMIM:606574
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE IV
gene_symbol: SLC45A2
disease_id: ORPHA:79435
disease_name: Oculocutaneous albinism type 4
OCA4
gene_symbol: LAMTOR2
disease_id: ORPHA:90023
disease_name: Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Primary immunodeficiency syndrome due to P14 deficiency
Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency
gene_symbol: ATP7A
disease_id: ORPHA:565
disease_name: Menkes disease
MD
Menkes kinky hair disease
Menkes syndrome
gene_symbol: SKIC3
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: SKIC2
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
gene_symbol: PRDM5
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: ZNF469
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: GNPTAB
disease_id: ORPHA:576
disease_name: Mucolipidosis type II
I-cell disease
Mucolipidosis type II alpha/beta
N-acetylglucosamine 1-phosphotransferase deficiency
gene_symbol: PADI3
disease_id: ORPHA:1410
disease_name: Uncombable hair syndrome
Pili trianguli et canaliculi
gene_symbol: TGM3
disease_id: ORPHA:1410
disease_name: Uncombable hair syndrome
Pili trianguli et canaliculi
gene_symbol: HRAS
disease_id: ORPHA:79414
disease_name: Woolly hair nevus
Wooly hair nevus
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome