Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: OMIM:602540
disease_name: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
gene_symbol: MBTPS2
disease_id: OMIM:308800
disease_name: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
gene_symbol: MBTPS2
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: COL17A1
disease_id: OMIM:619787
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE
gene_symbol: COL17A1
disease_id: ORPHA:251393
disease_name: Localized junctional epidermolysis bullosa
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
gene_symbol: COL17A1
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: PLEC
disease_id: OMIM:226670
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY
gene_symbol: PLEC
disease_id: ORPHA:158684
disease_name: Epidermolysis bullosa simplex with pyloric atresia
EBS with pyloric atresia
EBS-PA
gene_symbol: ITGB4
disease_id: ORPHA:158684
disease_name: Epidermolysis bullosa simplex with pyloric atresia
EBS with pyloric atresia
EBS-PA
gene_symbol: ITGB4
disease_id: ORPHA:251393
disease_name: Localized junctional epidermolysis bullosa
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
gene_symbol: ITGB4
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: CLDN1
disease_id: ORPHA:59303
disease_name: Neonatal ichthyosis-sclerosing cholangitis syndrome
IHSC
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
NISCH syndrome
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: LAMA3
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: LAMC2
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: LAMB3
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: NSDHL
disease_id: ORPHA:139
disease_name: CHILD syndrome
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects