TaoMedAI/RareMedData huggingface dataset:
Phenotype: Severe failure to thrive (HP:0001525)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: HYMAI
disease_id: OMIM:601410
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 1
gene_symbol: PLAGL1
disease_id: OMIM:601410
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 1
gene_symbol: ZFP57
disease_id: OMIM:601410
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 1
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: PRPS1
disease_id: ORPHA:423479
disease_name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
gene_symbol: BSND
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKB
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKA
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: ASXL1
disease_id: ORPHA:97297
disease_name: Bohring-Opitz syndrome
BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: CPAP
disease_id: OMIM:613676
disease_name: SECKEL SYNDROME 4
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: PEX7
disease_id: OMIM:215100
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
Phenotype: Increased red cell osmotic resistance (HP:0005546)
Associated genes and diseases:
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: HBB
disease_id: ORPHA:2133
disease_name: Hemoglobin E disease
Phenotype: Congenital hypoplastic anemia (HP:0004810)
Associated genes and diseases:
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: LPIN2
disease_id: ORPHA:77297
disease_name: Majeed syndrome
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: KIF23
disease_id: OMIM:105600
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
Phenotype: Chronic myelogenous leukemia (HP:0005506)
Associated genes and diseases:
gene_symbol: MPL
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: THPO
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: JAK2
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: ABL1
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
gene_symbol: BCR
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
Phenotype: Reduced protein C activity (HP:0005543)
Associated genes and diseases:
gene_symbol: MPI
disease_id: ORPHA:79319
disease_name: MPI-CDG
CDG syndrome type Ib
CDG-Ib
CDG1B
Carbohydrate deficient glycoprotein syndrome type Ib
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ib
Phosphomannose isomerase deficiency
gene_symbol: DPM1
disease_id: OMIM:608799
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: GGCX
disease_id: OMIM:277450
disease_name: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
gene_symbol: PROC
disease_id: OMIM:612304
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: PROC
disease_id: OMIM:176860
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: STX5
disease_id: OMIM:620454
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
gene_symbol: ALG6
disease_id: ORPHA:79320
disease_name: ALG6-CDG
CDG syndrome type Ic
CDG-Ic
CDG1C
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Glucosyltransferase 1 deficiency
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: B4GALT1
disease_id: ORPHA:79332
disease_name: B4GALT1-CDG
Beta-1,4-galactosyltransferase deficiency
CDG syndrome type IId
CDG-IId
CDG2D
Carbohydrate deficient glycoprotein syndrome type IId
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type IId
gene_symbol: ALG12
disease_id: ORPHA:79324
disease_name: ALG12-CDG
CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
gene_symbol: ALG8
disease_id: ORPHA:79325
disease_name: ALG8-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
Phenotype: Prolonged whole-blood clotting time (HP:0005542)
Associated genes and diseases:
gene_symbol: F9
disease_id: OMIM:306900
disease_name: HEMOPHILIA B
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: F5
disease_id: OMIM:227400
disease_name: FACTOR V DEFICIENCY
gene_symbol: F12
disease_id: OMIM:234000
disease_name: FACTOR XII DEFICIENCY
Phenotype: Congenital agranulocytosis (HP:0005541)
Associated genes and diseases:
gene_symbol: ELANE
disease_id: OMIM:202700
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
gene_symbol: AK2
disease_id: OMIM:267500
disease_name: RETICULAR DYSGENESIS
Phenotype: Decreased mean platelet volume (HP:0005537)
Associated genes and diseases:
gene_symbol: FYB1
disease_id: OMIM:273900
disease_name: THROMBOCYTOPENIA 3
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: WAS
disease_id: OMIM:313900
disease_name: THROMBOCYTOPENIA 1
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
gene_symbol: PTPRJ
disease_id: OMIM:620484
disease_name: THROMBOCYTOPENIA 10
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated genes and diseases:
gene_symbol: SH2B3
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: CALR
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TP53
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: MPL
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: MPL
disease_id: OMIM:601977
disease_name: THROMBOCYTHEMIA 2
gene_symbol: JAK2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: JAK2
disease_id: OMIM:263300
disease_name: POLYCYTHEMIA VERA
gene_symbol: TET2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TET2
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: GNE
disease_id: OMIM:620757
disease_name: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY
gene_symbol: SF3B1
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
Phenotype: Decreased neutrophil oxidative burst (HP:0003203)
Associated genes and diseases:
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
gene_symbol: CYBB
disease_id: OMIM:306400
disease_name: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
gene_symbol: NCF1
disease_id: OMIM:233700
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
gene_symbol: SPPL2A
disease_id: OMIM:619549
disease_name: IMMUNODEFICIENCY 86
gene_symbol: CYBA
disease_id: OMIM:233690
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4
gene_symbol: RAC2
disease_id: OMIM:608203
disease_name: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: IRF8
disease_id: OMIM:226990
disease_name: IMMUNODEFICIENCY 32B
Phenotype: Heinz body anemia (HP:0005511)
Associated genes and diseases:
gene_symbol: HBA2
disease_id: OMIM:140700
disease_name: HEINZ BODY ANEMIAS
gene_symbol: HBA1
disease_id: OMIM:140700
disease_name: HEINZ BODY ANEMIAS
gene_symbol: HBB
disease_id: OMIM:140700
disease_name: HEINZ BODY ANEMIAS
Phenotype: Monoclonal immunoglobulin M proteinemia (HP:0005508)
Associated genes and diseases:
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: MYD88
disease_id: OMIM:153600
disease_name: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated genes and diseases:
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: MYD88
disease_id: OMIM:153600
disease_name: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
gene_symbol: IL2RG
disease_id: ORPHA:276
disease_name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
SCIDX1
T-B+ SCID due to gamma chain deficiency
T-B+ severe combined immunodeficiency, X-linked
gene_symbol: CD70
disease_id: OMIM:618261
disease_name: LYMPHOPROLIFERATIVE SYNDROME 3
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: NRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: KRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: CD27
disease_id: OMIM:615122
disease_name: LYMPHOPROLIFERATIVE SYNDROME 2
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: SMARCAL1
disease_id: ORPHA:1830
disease_name: Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: ZAP70
disease_id: ORPHA:911
disease_name: Combined immunodeficiency due to ZAP70 deficiency
Zeta-associated-protein 70 deficiency
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: MCM4
disease_id: OMIM:609981
disease_name: IMMUNODEFICIENCY 54
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated genes and diseases:
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
Phenotype: Chronic disseminated intravascular coagulation (HP:0005520)
Associated genes and diseases:
gene_symbol: GNA14
disease_id: ORPHA:2122
disease_name: Kaposiform hemangioendothelioma
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated genes and diseases:
gene_symbol: EPB41
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: GYPC
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTB
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTB
disease_id: OMIM:616649
disease_name: SPHEROCYTOSIS, TYPE 2
gene_symbol: SPTB
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTA1
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTA1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: PKLR
disease_id: OMIM:266200
disease_name: PYRUVATE KINASE DEFICIENCY OF RED CELLS
gene_symbol: RHAG
disease_id: OMIM:185000
disease_name: OVERHYDRATED HEREDITARY STOMATOCYTOSIS
gene_symbol: RHAG
disease_id: OMIM:268150
disease_name: RH-NULL, REGULATOR TYPE
gene_symbol: RHAG
disease_id: ORPHA:3203
disease_name: Overhydrated hereditary stomatocytosis
gene_symbol: RHAG
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: EPB42
disease_id: OMIM:612690
disease_name: SPHEROCYTOSIS, TYPE 5
gene_symbol: EPB42
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: RHCE
disease_id: OMIM:617970
disease_name: RH-NULL, AMORPH TYPE
gene_symbol: RHCE
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: SLC4A1
disease_id: OMIM:612653
disease_name: SPHEROCYTOSIS, TYPE 4
gene_symbol: SLC4A1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: SLC4A1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: PIEZO1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: KCNN4
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: RHD
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: ANK1
disease_id: OMIM:182900
disease_name: SPHEROCYTOSIS, TYPE 1
gene_symbol: ANK1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
Phenotype: Facial telangiectasia in butterfly midface distribution (HP:0005598)
Associated genes and diseases:
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
Phenotype: Congenital alopecia totalis (HP:0005597)
Associated genes and diseases:
gene_symbol: FOXN1
disease_id: ORPHA:169095
disease_name: Severe combined immunodeficiency due to FOXN1 deficiency
Alymphoid cystic thymic dysgenesis
Nude/SCID
Nude/severe combined immunodeficiency
SCID due to FOXN1 deficiency
Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
Winged helix deficiency
gene_symbol: DSP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: JUP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated genes and diseases:
gene_symbol: KRT10
disease_id: OMIM:620150
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT
gene_symbol: KRT10
disease_id: OMIM:620707
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE
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: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly 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: LMNA
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: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: GJB3
disease_id: OMIM:133200
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
gene_symbol: FUCA1
disease_id: ORPHA:349
disease_name: Fucosidosis
Alpha-L-fucosidase deficiency
Phenotype: Severe short-limb dwarfism (HP:0008890)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: LBR
disease_id: ORPHA:1426
disease_name: Greenberg dysplasia
HEM dysplasia
Hydrops-ectopic calcification-motheaten syndrome
Skeletal dysplasia, Greenberg type
gene_symbol: FLNB
disease_id: ORPHA:1263
disease_name: Boomerang dysplasia
gene_symbol: NSMCE2
disease_id: ORPHA:436182
disease_name: Microcephalic primordial dwarfism-insulin resistance syndrome
gene_symbol: XRCC4
disease_id: ORPHA:436182
disease_name: Microcephalic primordial dwarfism-insulin resistance syndrome
gene_symbol: GDF5
disease_id: ORPHA:968
disease_name: Acromesomelic dysplasia, Hunter-Thompson type
Acromesomelic dwarfism
gene_symbol: GDF5
disease_id: OMIM:201250
disease_name: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated genes and diseases:
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: PRKACA
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PRKACB
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: DYNC2LI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: SLC26A2
disease_id: OMIM:600972
disease_name: ACHONDROGENESIS, TYPE IB
gene_symbol: SLC26A2
disease_id: OMIM:222600
disease_name: DIASTROPHIC DYSPLASIA
gene_symbol: SLC26A2
disease_id: ORPHA:628
disease_name: Diastrophic dysplasia
Diastrophic dwarfism
gene_symbol: COL2A1
disease_id: OMIM:151210
disease_name: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: PTH1R
disease_id: ORPHA:50945
disease_name: Blomstrand lethal chondrodysplasia
BLC
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type