Phenotype: Hyperkeratosis (HP:0000962)
Associated genes and diseases:
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: KRT10
disease_id: ORPHA:312
disease_name: Autosomal dominant epidermolytic ichthyosis
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
gene_symbol: KRT10
disease_id: OMIM:620150
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT
gene_symbol: KRT10
disease_id: OMIM:146600
disease_name: ICHTHYOSIS HYSTRIX, LAMBERT TYPE
gene_symbol: KRT1
disease_id: ORPHA:312
disease_name: Autosomal dominant epidermolytic ichthyosis
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
gene_symbol: KRT1
disease_id: ORPHA:79503
disease_name: Ichthyosis hystrix of Curth-Macklin
Ichthyosis hystrix, Curth-Macklin type
gene_symbol: KRT1
disease_id: ORPHA:2199
disease_name: Epidermolytic palmoplantar keratoderma
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
EPPK
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner
gene_symbol: SHOC2
disease_id: OMIM:607721
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: ATL3
disease_id: OMIM:615632
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
gene_symbol: ATL3
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: RIT1
disease_id: OMIM:615355
disease_name: NOONAN SYNDROME 8
gene_symbol: GMPPA
disease_id: OMIM:615510
disease_name: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: OMIM:613707
disease_name: LEOPARD SYNDROME 3
gene_symbol: KITLG
disease_id: OMIM:145250
disease_name: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE
gene_symbol: INSR
disease_id: ORPHA:2297
disease_name: Insulin-resistance syndrome type A
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: ANAPC1
disease_id: OMIM:618625
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 1
gene_symbol: ZNF750
disease_id: OMIM:610227
disease_name: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79399
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized EBS, intermediate form
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: VPS33B
disease_id: ORPHA:2697
disease_name: Arthrogryposis-renal dysfunction-cholestasis syndrome
ARC syndrome
gene_symbol: VIPAS39
disease_id: ORPHA:2697
disease_name: Arthrogryposis-renal dysfunction-cholestasis syndrome
ARC syndrome
gene_symbol: GBA1
disease_id: OMIM:608013
disease_name: GAUCHER DISEASE, PERINATAL LETHAL
gene_symbol: USB1
disease_id: OMIM:604173
disease_name: POIKILODERMA WITH NEUTROPENIA
gene_symbol: GJB2
disease_id: OMIM:602540
disease_name: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
gene_symbol: GJB2
disease_id: ORPHA:2202
disease_name: Palmoplantar keratoderma-deafness syndrome
PPK-deafness syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma-hearing loss syndrome
gene_symbol: GJB2
disease_id: ORPHA:494
disease_name: Keratoderma hereditarium mutilans
Mutilating keratoderma of Vohwinkel
Mutilating keratoderma plus deafness
Mutilating keratoderma plus hearing loss
PPK mutilans and deafness
PPK mutilans and hearing loss
Vohwinkel syndrome
gene_symbol: GJB2
disease_id: OMIM:148210
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: HLA-B
disease_id: ORPHA:29207
disease_name: Reactive arthritis
Fiessinger-Leroy disease
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: RIGI
disease_id: OMIM:616298
disease_name: SINGLETON-MERTEN SYNDROME 2
gene_symbol: COL7A1
disease_id: ORPHA:89843
disease_name: Dystrophic epidermolysis bullosa pruriginosa
DEB pruriginosa
DEB-Pr
Pruriginous dystrophic epidermolysis bullosa
gene_symbol: COL7A1
disease_id: OMIM:131850
disease_name: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL
gene_symbol: ENPP1
disease_id: OMIM:615522
disease_name: COLE DISEASE
gene_symbol: MBTPS2
disease_id: OMIM:300918
disease_name: OLMSTED SYNDROME, X-LINKED
gene_symbol: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: ELMO2
disease_id: ORPHA:3019
disease_name: Ramon syndrome
Cherubism-gingival fibromatosis-intellectual disability syndrome
gene_symbol: MT-TS1
disease_id: ORPHA:2202
disease_name: Palmoplantar keratoderma-deafness syndrome
PPK-deafness syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma-hearing loss syndrome
gene_symbol: SRD5A3
disease_id: OMIM:612379
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
gene_symbol: ALDH3A2
disease_id: ORPHA:816
disease_name: Sjögren-Larsson syndrome
Fatty acid alcohol oxidoreductase deficiency
gene_symbol: KRT14
disease_id: OMIM:131800
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
gene_symbol: KRT14
disease_id: ORPHA:89838
disease_name: Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive generalized EBS
gene_symbol: KRT14
disease_id: ORPHA:79399
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized EBS, intermediate form
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
gene_symbol: PERP
disease_id: OMIM:619208
disease_name: OLMSTED SYNDROME 2
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: ATP2C1
disease_id: ORPHA:2841
disease_name: Hailey-Hailey disease
Benign chronic familial pemphigus
gene_symbol: NSDHL
disease_id: ORPHA:139
disease_name: CHILD syndrome
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
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: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: ADAM10
disease_id: OMIM:615537
disease_name: RETICULATE ACROPIGMENTATION OF KITAMURA
gene_symbol: STS
disease_id: ORPHA:281090
disease_name: Syndromic recessive X-linked ichthyosis
Recessive X-linked ichthyosis with extracutaneous manifestations
Syndromic RXLI
gene_symbol: STS
disease_id: ORPHA:461
disease_name: Recessive X-linked ichthyosis
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K1
disease_id: OMIM:615279
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 3
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: DOLK
disease_id: OMIM:610768
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: ST14
disease_id: OMIM:602400
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11
gene_symbol: TAT
disease_id: ORPHA:28378
disease_name: Tyrosinemia type 2
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
gene_symbol: HRAS
disease_id: ORPHA:3071
disease_name: Costello syndrome
FCS syndrome
Faciocutaneoskeletal syndrome
gene_symbol: CSTA
disease_id: OMIM:607936
disease_name: PEELING SKIN SYNDROME 4
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: CERS3
disease_id: OMIM:615023
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
gene_symbol: PNPLA1
disease_id: OMIM:615024
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: EXPH5
disease_id: OMIM:615028
disease_name: EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE
gene_symbol: IL17RC
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: CLEC7A
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: IL17RA
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: TRAF3IP2
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: IL17F
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: ASPRV1
disease_id: OMIM:146750
disease_name: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT
gene_symbol: ASPRV1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: CDH3
disease_id: ORPHA:1573
disease_name: Hypotrichosis with juvenile macular degeneration
HJMD
Hypotrichosis with juvenile macular dystrophy
gene_symbol: DSP
disease_id: OMIM:615821
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
gene_symbol: ELOVL4
disease_id: OMIM:614457
disease_name: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: GJA1
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: GJA1
disease_id: OMIM:104100
disease_name: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
gene_symbol: GJA1
disease_id: OMIM:617525
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
gene_symbol: GJB3
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: KDSR
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: KDSR
disease_id: OMIM:617526
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
gene_symbol: GJB4
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
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: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ALOX12B
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ALOX12B
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: CYP4F22
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SULT2B1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SULT2B1
disease_id: OMIM:617571
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
gene_symbol: ABCA12
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ABCA12
disease_id: ORPHA:457
disease_name: Harlequin ichthyosis
Autosomal congenital ichthyosis, Harlequin type
HI
Ichthyosis congenita, Harlequin type
gene_symbol: LIPN
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: LIPN
disease_id: OMIM:613943
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
gene_symbol: ALOXE3
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ALOXE3
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: ALOXE3
disease_id: OMIM:606545
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
gene_symbol: NIPAL4
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: NIPAL4
disease_id: OMIM:612281
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
gene_symbol: SDR9C7
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SDR9C7
disease_id: OMIM:617574
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
gene_symbol: TGM1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SPTLC1
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: SPTLC2
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: ATL1
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: WNT10A
disease_id: OMIM:224750
disease_name: SCHOPF-SCHULZ-PASSARGE SYNDROME
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: KRT74
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: KLK11
disease_id: OMIM:620507
disease_name: ICHTHYOSIS WITH ERYTHROKERATODERMA
gene_symbol: HDAC6
disease_id: ORPHA:163966
disease_name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: PEPD
disease_id: ORPHA:742
disease_name: Prolidase deficiency
Hyperimidodipeptiduria
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: FLG
disease_id: ORPHA:461
disease_name: Recessive X-linked ichthyosis
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: ATP2A2
disease_id: OMIM:101900
disease_name: ACROKERATOSIS VERRUCIFORMIS
gene_symbol: ATP2A2
disease_id: ORPHA:79151
disease_name: Acrokeratosis verruciformis of Hopf
AKV of Hopf
gene_symbol: IL1RN
disease_id: OMIM:612852
disease_name: OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
gene_symbol: PMVK
disease_id: ORPHA:735
disease_name: Porokeratosis of Mibelli
gene_symbol: MVK
disease_id: ORPHA:735
disease_name: Porokeratosis of Mibelli
gene_symbol: FLT4
disease_id: ORPHA:79452
disease_name: Milroy disease
Hereditary lymphedema type I
Nonne-Milroy lymphedema
gene_symbol: COL12A1
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A1
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A2
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A3
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: ECM1
disease_id: ORPHA:530
disease_name: Lipoid proteinosis
Hyalinosis cutis et mucosae
Urbach-Wiethe disease
gene_symbol: ECM1
disease_id: OMIM:247100
disease_name: LIPOID PROTEINOSIS OF URBACH AND WIETHE
gene_symbol: LORICRIN
disease_id: OMIM:604117
disease_name: VOHWINKEL SYNDROME, VARIANT FORM
gene_symbol: LORICRIN
disease_id: ORPHA:79395
disease_name: Keratoderma hereditarium mutilans with ichthyosis
Camisa disease
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis
gene_symbol: DIP2B
disease_id: OMIM:136630
disease_name: MENTAL RETARDATION, FRA12A TYPE
gene_symbol: POLA1
disease_id: OMIM:301220
disease_name: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: FERMT1
disease_id: ORPHA:2908
disease_name: Kindler epidermolysis bullosa
Congenital bullous poikiloderma
Kindler syndrome
Poikiloderma of Kindler
gene_symbol: KRT83
disease_id: OMIM:617756
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
gene_symbol: GRHL2
disease_id: OMIM:616029
disease_name: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
gene_symbol: NAGA
disease_id: ORPHA:79280
disease_name: Alpha-N-acetylgalactosaminidase deficiency type 2
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Kanzaki disease
NAGA deficiency type 2
Schindler disease type 2
gene_symbol: NAGA
disease_id: OMIM:609242
disease_name: KANZAKI DISEASE
gene_symbol: NAGA
disease_id: ORPHA:79279
disease_name: Alpha-N-acetylgalactosaminidase deficiency type 1
NAGA deficiency type 1
Schindler disease type 1
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
gene_symbol: SERPINB8
disease_id: OMIM:617115
disease_name: PEELING SKIN SYNDROME 5
gene_symbol: KRT16
disease_id: ORPHA:2199
disease_name: Epidermolytic palmoplantar keratoderma
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
EPPK
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner
gene_symbol: KRT9
disease_id: ORPHA:2199
disease_name: Epidermolytic palmoplantar keratoderma
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
EPPK
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner
gene_symbol: PPOX
disease_id: OMIM:620483
disease_name: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
gene_symbol: CARD14
disease_id: OMIM:602723
disease_name: PSORIASIS 2
gene_symbol: AP1B1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: AP1S1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
gene_symbol: GLS
disease_id: OMIM:618339
disease_name: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: MDFIC
disease_id: OMIM:620014
disease_name: LYMPHATIC MALFORMATION 12
gene_symbol: CTLA4
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD28
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TNFRSF1B
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TYR
disease_id: ORPHA:79431
disease_name: Oculocutaneous albinism type 1A
OCA1A
Tyrosinase-negative oculocutaneous albinism
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: VEGFC
disease_id: OMIM:615907
disease_name: LYMPHATIC MALFORMATION 4
gene_symbol: NOP10
disease_id: OMIM:224230
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
gene_symbol: NHP2
disease_id: OMIM:224230
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
gene_symbol: CTSC
disease_id: OMIM:170650
disease_name: PERIODONTITIS, AGGRESSIVE, 1
gene_symbol: CTSC
disease_id: OMIM:245000
disease_name: PAPILLON-LEFEVRE SYNDROME
gene_symbol: CTSC
disease_id: ORPHA:2342
disease_name: Haim-Munk syndrome
Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
gene_symbol: CTSC
disease_id: ORPHA:678
disease_name: Papillon-Lefèvre syndrome
Keratosis palmoplantar-periodontopathy syndrome
PLS
gene_symbol: HPGD
disease_id: OMIM:259100
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
gene_symbol: KRT85
disease_id: OMIM:602032
disease_name: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: NECTIN1
disease_id: ORPHA:3253
disease_name: Cleft lip/palate-ectodermal dysplasia syndrome
CLPED1
Cleft lip/palate-syndactyly-pili torti syndrome
Syndactyly-ectodermal dysplasia-cleft/lip palate
Zlotogora-Ogur syndrome
gene_symbol: NECTIN1
disease_id: OMIM:225060
disease_name: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
gene_symbol: TERT
disease_id: OMIM:613989
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: DST
disease_id: OMIM:615425
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
gene_symbol: LSS
disease_id: ORPHA:1366
disease_name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Cataract-alopecia-sclerodactyly syndrome
PPK-CA, Wallis type
Palmoplantar keratoderma and congenital alopecia, Wallis type
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: DSC2
disease_id: OMIM:610476
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
gene_symbol: KRT2
disease_id: ORPHA:455
disease_name: Superficial epidermolytic ichthyosis
Ichthyosis bullosa of Siemens
SEI
gene_symbol: SLCO2A1
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
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: 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: SASH1
disease_id: OMIM:618373
disease_name: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
gene_symbol: CST6
disease_id: OMIM:618535
disease_name: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE
gene_symbol: TRPM4
disease_id: ORPHA:316
disease_name: Progressive symmetric erythrokeratodermia
Darier-Gottron disease
Erythrokeratodermia progressiva symmetrica
Progressive symmetric erythrokeratodermia, Gottron type
gene_symbol: KANK2
disease_id: OMIM:616099
disease_name: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
gene_symbol: FGFR2
disease_id: ORPHA:1555
disease_name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: SNAP29
disease_id: OMIM:609528
disease_name: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TINF2
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: RTEL1
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: TERC
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: PARN
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: TUFT1
disease_id: OMIM:620415
disease_name: WOOLLY HAIR-SKIN FRAGILITY SYNDROME
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: FUCA1
disease_id: ORPHA:349
disease_name: Fucosidosis
Alpha-L-fucosidase deficiency
gene_symbol: SLURP1
disease_id: ORPHA:87503
disease_name: Mal de Meleda
Keratosis palmoplantaris transgrediens of Siemens
Meleda disease
Transgrediens palmoplantar keratoderma of Siemens
gene_symbol: AQP5
disease_id: OMIM:600231
disease_name: PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
gene_symbol: AQP5
disease_id: ORPHA:2337
disease_name: Diffuse palmoplantar keratoderma, Bothnian type
Diffuse palmoplantar keratoderma, Bothnia type
NEPPK, Bothnia type
NEPPK, Bothnian type
gene_symbol: KLHL24
disease_id: OMIM:617294
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
gene_symbol: KRT86
disease_id: OMIM:158000
disease_name: MONILETHRIX
gene_symbol: HLA-DRA
disease_id: ORPHA:505
disease_name: Graham Little-Piccardi-Lassueur syndrome
Graham Little syndrome
Piccardi-Lassueur-Little syndrome
gene_symbol: POMP
disease_id: OMIM:601952
disease_name: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA
gene_symbol: KRT17
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6A
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6B
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: DSG1
disease_id: OMIM:148700
disease_name: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE
gene_symbol: DSG4
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: DSG4
disease_id: OMIM:607903
disease_name: HYPOTRICHOSIS 6
gene_symbol: KRT81
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
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: PKP1
disease_id: ORPHA:158668
disease_name: Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: FKBP14
disease_id: ORPHA:300179
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
FKBP14-related EDS
FKBP22-deficient EDS
Kyphoscoliotic EDS due to FKBP22 deficiency
kEDS-FKBP14
gene_symbol: FKBP14
disease_id: OMIM:614557
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
gene_symbol: RHBDF2
disease_id: OMIM:148500
disease_name: TYLOSIS WITH ESOPHAGEAL CANCER
gene_symbol: TARS1
disease_id: OMIM:618546
disease_name: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE
gene_symbol: LRP1
disease_id: ORPHA:79100
disease_name: Atrophoderma vermiculata
Folliculitis ulerythematosa reticulate
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: SLC27A4
disease_id: OMIM:608649
disease_name: ICHTHYOSIS PREMATURITY SYNDROME
gene_symbol: TRIP4
disease_id: OMIM:617066
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE
gene_symbol: TRIP4
disease_id: ORPHA:486815
disease_name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital muscular dystrophy, Davignon-Chauveau type
gene_symbol: DDR2
disease_id: OMIM:618175
disease_name: WARBURG-CINOTTI SYNDROME
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
gene_symbol: NLRP1
disease_id: OMIM:615225
disease_name: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
gene_symbol: DSC3
disease_id: OMIM:613102
disease_name: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: PLEC
disease_id: OMIM:616487
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
gene_symbol: COL17A1
disease_id: OMIM:226650
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
gene_symbol: LAMB3
disease_id: OMIM:226650
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: KRT6C
disease_id: OMIM:615735
disease_name: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
gene_symbol: TRAPPC11
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: AAAS
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
gene_symbol: SMARCAD1
disease_id: OMIM:136000
disease_name: ADERMATOGLYPHIA
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: NECTIN4
disease_id: OMIM:613573
disease_name: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
gene_symbol: CFTR
disease_id: ORPHA:498359
disease_name: Aquagenic palmoplantar keratoderma
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
gene_symbol: SERPINB7
disease_id: OMIM:615598
disease_name: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE
gene_symbol: RSPO1
disease_id: OMIM:610644
disease_name: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
gene_symbol: EPHB4
disease_id: ORPHA:90186
disease_name: Meige disease
Hereditary lymphedema type II
Meige lymphedema
gene_symbol: KRT13
disease_id: OMIM:615785
disease_name: WHITE SPONGE NEVUS 2
gene_symbol: CCDC91
disease_id: ORPHA:38
disease_name: Acrokeratoelastoidosis of Costa
AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
gene_symbol: COL14A1
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: AAGAB
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1