At a Glance
GAPO syndrome;
ADULT syndrome;
Alopecia universalis congenita
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GAPO syndrome
ADULT syndrome
Alopecia universalis congenita
Alopecia-intellectual disability syndrome 4
Ankyloblepharon-ectodermal defects, cleft lip/palate
Arrhythmogenic right ventricular cardiomyopathy, type 12
Arrhythmogenic right ventricular dysplasia 8
Atrichia with papular lesions
Atrioventricular septal defect 3
Autosomal dominant popliteal pterygium syndrome
Autosomal recessive woolly hair 3
Beaded hair
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
Cataract 44
Cerebrooculofacioskeletal syndrome 2
Char syndrome
Chondrodysplasia Blomstrand type
Cleft lip/palate-ectodermal dysplasia syndrome
Cockayne syndrome type A
Congenital hypotrichosis with juvenile macular dystrophy
Corneal dystrophy, posterior polymorphous 4
Coronary artery disease, autosomal dominant 2
Craniometaphyseal dysplasia, autosomal recessive
Cutis laxa, X-linked
Deafness, X-linked 2
Deafness, autosomal dominant 28
Deafness, autosomal dominant 3a
Deafness, autosomal dominant 3b
Deafness, autosomal recessive 1A
Deafness, autosomal recessive 1b
Deafness, autosomal recessive 98
Dentin dysplasia, type 1
Dermatopathia pigmentosa reticularis
Dilated cardiomyopathy with woolly hair and keratoderma
Distal spinal muscular atrophy, X-linked 3
EEM syndrome
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Ectodermal dysplasia 13, hair/tooth type
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Ectodermal dysplasia 4, hair/nail type
Ectodermal dysplasia 7, hair/nail type
Ectodermal dysplasia 9, hair/nail type
Ectodermal dysplasia-syndactyly syndrome 1
Ectodermal dysplasia/short stature syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
Eiken syndrome
Epidermolysis bullosa simplex Dowling-Meara type
Epidermolysis bullosa simplex due to plakophilin deficiency
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, autosomal recessive
Erythrokeratodermia variabilis et progressiva 3
Erythrokeratodermia variabilis et progressiva 5
Failure of tooth eruption, primary
Focal dermal hypoplasia
GRACILE syndrome
Haim-Munk syndrome
Hemangioma, capillary infantile
Hidrotic ectodermal dysplasia syndrome
Hypoplastic left heart syndrome 1
Hypotrichosis 1
Hypotrichosis 11
Hypotrichosis 12
Hypotrichosis 13
Hypotrichosis 14
Hypotrichosis 2
Hypotrichosis 3
Hypotrichosis 4
Hypotrichosis 6
Hypotrichosis 7
Hypotrichosis 8
Hypotrichosis-lymphedema-telangiectasia syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hystrix-like ichthyosis with deafness
IFAP syndrome 1, with or without BRESHECK syndrome
Inflammatory skin and bowel disease, neonatal, 2
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
Keratosis follicularis spinulosa decalvans, X-linked
Keratosis palmoplantaris striata II
Knuckle pads, deafness AND leukonychia syndrome
Lethal acantholytic epidermolysis bullosa
Limb-mammary syndrome
Localized epidermolysis bullosa simplex
Macrocephaly, alopecia, cutis laxa, and scoliosis
Malignant Colorectal Neoplasm
Menkes kinky-hair syndrome
Metaphyseal chondrodysplasia, Jansen type
Microphthalmia with brain and digit anomalies
Mitochondrial complex III deficiency, nuclear type 1
Mutilating keratoderma
Naegeli-Franceschetti-Jadassohn syndrome
Naxos disease
Neonatal ichthyosis-sclerosing cholangitis syndrome
Nephrotic syndrome type 16
Netherton syndrome
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Oligodontia-colorectal cancer syndrome
Olmsted syndrome 1
Orofacial cleft 11
Orofacial cleft 6, susceptibility to
Orofacial cleft 8
Osteogenesis imperfecta, type 19
Pachyonychia congenita 1
Pachyonychia congenita 2
Pachyonychia congenita 3
Pachyonychia congenita 4
Palmoplantar keratoderma and woolly hair
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
Palmoplantar keratoderma, nonepidermolytic, focal 1
Palmoplantar keratoderma, nonepidermolytic, focal 2
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Palmoplantar keratoderma-deafness syndrome
Papillon-Lefèvre syndrome
Patent ductus arteriosus 2
Peeling skin syndrome 1
Periodontitis, aggressive, 1
Pili torti-deafness syndrome
Rapp-Hodgkin ectodermal dysplasia syndrome
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Split-hand/foot malformation 4
Split-hand/foot malformation 6
Steatocystoma multiplex
Syndactyly type 3
Tooth agenesis, selective, 7
Tooth agenesis, selective, 8
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichothiodystrophy 1, photosensitive
Trichothiodystrophy 2, photosensitive
Trichothiodystrophy 3, photosensitive
Trichothiodystrophy 5, nonphotosensitive
Trichothiodystrophy 6, nonphotosensitive
Trichothiodystrophy, nonphotosensitive 1
UV-sensitive syndrome 2
Woolly hair, autosomal dominant
Xeroderma pigmentosum, complementation group b
Xeroderma pigmentosum, group D
autosomal dominant palmoplantar keratoderma and congenital alopecia
van der Woude syndrome 1
ANTXR1 (2p13.3);
APCDD1 (18p11.22);
ATP7A (Xq21.1);
AXIN2 (17q24.1);
BCS1L (2q35)
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ANTXR1 (2p13.3)
APCDD1 (18p11.22)
ATP7A (Xq21.1)
AXIN2 (17q24.1)
BCS1L (2q35)
BMP4 (14q22.2)
CDH3 (16q22.1)
CDSN (6p21.33)
CLDN1 (3q28)
CTSC (11q14.2)
DSG4 (18q12.1)
DSP (6p24.3)
EGFR (7p11.2)
ERCC2 (19q13.32)
ERCC3 (2q14.3)
ERCC8 (5q12.1)
GJA1 (6q22.31)
GJB2 (13q12.11)
GJB6 (13q12.11)
GRHL2 (8q22.3)
GTF2E2 (8p12)
GTF2H5 (6q25.3)
HOXC13 (12q13.13)
HR (8p21.3)
IRF6 (1q32.2)
JUP (17q21.2)
KANK2 (19p13.2)
KDF1 (1p36.11)
KREMEN1 (22q12.1)
KRT14 (17q21.2)
KRT16 (17q21.2)
KRT17 (17q21.2)
KRT25 (17q21.2)
KRT6A (12q13.13)
KRT6B (12q13.13)
KRT6C (12q13.13)
KRT71 (12q13.13)
KRT74 (12q13.13)
KRT83 (12q13.13)
KRT85 (12q13.13)
LIPH (3q27.2)
LPAR6 (13q14.2)
LRP6 (12p13.2)
LSS (21q22.3)
MBTPS2 (Xp22.12)
MPLKIP (7p14.1)
NECTIN1 (11q23.3)
NECTIN4 (1q23.3)
PKP1 (1q32.1)
POC1A (3p21.2)
PORCN (Xp11.23)
PTH1R (3p21.31)
RIN2 (20p11.23)
RNF113A (Xq24)
RPL21 (13q12.2)
SMOC2 (6q27)
SNRPE (1q32.1)
SOX18 (20q13.33)
SPINK5 (5q32)
TFAP2B (6p12.3)
TP63 (3q28)
TRPS1 (8q23.3)
TRPV3 (17p13.2)
TSPEAR (21q22.3)
WNT10B (12q13.12)
Conditions
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Total conditions: 140
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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Test method
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