Phenotype: Fine hair (HP:0002213)
Associated genes and diseases:
gene_symbol: HRAS
disease_id: ORPHA:79414
disease_name: Woolly hair nevus
Wooly hair nevus
gene_symbol: MSX1
disease_id: OMIM:189500
disease_name: WITKOP SYNDROME
gene_symbol: MSX1
disease_id: ORPHA:2228
disease_name: Hypodontia-dysplasia of nails syndrome
Hypodontia-nail dysgenesis syndrome
Tooth and nail syndrome
Witkop syndrome
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: TINF2
disease_id: OMIM:613990
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: ALX4
disease_id: ORPHA:228390
disease_name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia type 2
Frontonasal dysplasia with alopecia and genital abnomality
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
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: RAF1
disease_id: OMIM:611553
disease_name: NOONAN SYNDROME 5
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: DSG4
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT86
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT83
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT81
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
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: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
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: KRT74
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
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: KRT25
disease_id: OMIM:616760
disease_name: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: OMIM:615278
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 2
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: WNT10A
disease_id: ORPHA:248
disease_name: Autosomal recessive hypohidrotic ectodermal dysplasia
AR-HED
Autosomal recessive anhidrotic ectodermal dysplasia
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: GJB6
disease_id: OMIM:129500
disease_name: CLOUSTON SYNDROME
gene_symbol: GJB6
disease_id: ORPHA:189
disease_name: Hidrotic ectodermal dysplasia
Clouston syndrome
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: GJA1
disease_id: OMIM:164200
disease_name: OCULODENTODIGITAL DYSPLASIA
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: CARS1
disease_id: OMIM:618891
disease_name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
gene_symbol: CDH3
disease_id: ORPHA:1573
disease_name: Hypotrichosis with juvenile macular degeneration
HJMD
Hypotrichosis with juvenile macular dystrophy
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: SIN3A
disease_id: ORPHA:500166
disease_name: SIN3-related intellectual disability syndrome due to a point mutation
gene_symbol: DEAF1
disease_id: OMIM:615828
disease_name: VULTO-VAN SILFHOUT-DE VRIES SYNDROME
gene_symbol: PIGL
disease_id: ORPHA:3474
disease_name: CHIME syndrome
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: TP63
disease_id: ORPHA:978
disease_name: ADULT syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome
Pigment anomaly-ectrodactyly-hypodontia syndrome
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: EDARADD
disease_id: OMIM:129490
disease_name: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
gene_symbol: EDARADD
disease_id: ORPHA:248
disease_name: Autosomal recessive hypohidrotic ectodermal dysplasia
AR-HED
Autosomal recessive anhidrotic ectodermal dysplasia
gene_symbol: EDAR
disease_id: OMIM:129490
disease_name: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
gene_symbol: EDAR
disease_id: ORPHA:248
disease_name: Autosomal recessive hypohidrotic ectodermal dysplasia
AR-HED
Autosomal recessive anhidrotic ectodermal dysplasia
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: KAT6B
disease_id: ORPHA:85201
disease_name: Genitopatellar syndrome
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: PPP1R15B
disease_id: OMIM:616817
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: EZH2
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: CSTB
disease_id: ORPHA:248
disease_name: Autosomal recessive hypohidrotic ectodermal dysplasia
AR-HED
Autosomal recessive anhidrotic ectodermal dysplasia
gene_symbol: HPD
disease_id: ORPHA:2118
disease_name: Hawkinsinuria
4-HPPD deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
gene_symbol: TWIST2
disease_id: ORPHA:920
disease_name: Ablepharon macrostomia syndrome
gene_symbol: NSD1
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: SUZ12
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: BCS1L
disease_id: ORPHA:123
disease_name: Björnstad syndrome
Deafness-pili torti-hypogonadism syndrome
Hearing loss-pili torti-hypogonadism syndrome
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: DCAF17
disease_id: OMIM:241080
disease_name: WOODHOUSE-SAKATI SYNDROME
gene_symbol: SIN3B
disease_id: ORPHA:500166
disease_name: SIN3-related intellectual disability syndrome due to a point mutation
gene_symbol: IFT43
disease_id: OMIM:614099
disease_name: CRANIOECTODERMAL DYSPLASIA 3
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: CBL
disease_id: OMIM:613563
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: COL3A1
disease_id: ORPHA:2500
disease_name: Acrogeria
Acrogeria, Gottron type
Acrometageria
Gottron syndrome
gene_symbol: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: SPINK5
disease_id: ORPHA:634
disease_name: Netherton syndrome
Bamboo hair syndrome
Comèl-Netherton syndrome
NS