TaoMedAI/RareMedData huggingface dataset:
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: DYNC2I1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: IFT80
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: WDR35
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I2
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: SLC26A2
disease_id: ORPHA:93298
disease_name: Achondrogenesis type 1B
Achondrogenesis, Parenti-Fraccaro type
gene_symbol: TRIP11
disease_id: ORPHA:93299
disease_name: Achondrogenesis type 1A
Achondrogenesis, Houston-Harris type
gene_symbol: COL2A1
disease_id: OMIM:151210
disease_name: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
gene_symbol: PTH1R
disease_id: ORPHA:50945
disease_name: Blomstrand lethal chondrodysplasia
BLC
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type
Phenotype: Giant melanosomes in melanocytes (HP:0005592)
Associated genes and diseases:
gene_symbol: AP3D1
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: GPR143
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: GPR143
disease_id: OMIM:300500
disease_name: ALBINISM, OCULAR, TYPE I
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: CACNA1F
disease_id: OMIM:300600
disease_name: ALAND ISLAND EYE DISEASE
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated genes and diseases:
gene_symbol: EBP
disease_id: ORPHA:401973
disease_name: MEND syndrome
Male EBP disorder with neurological defects
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: ABCB6
disease_id: ORPHA:241
disease_name: Dyschromatosis universalis hereditaria
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
gene_symbol: FERMT1
disease_id: OMIM:173650
disease_name: KINDLER SYNDROME
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
gene_symbol: KRT5
disease_id: ORPHA:79397
disease_name: Epidermolysis bullosa simplex with mottled pigmentation
EBS with mottled pigmentation
EBS-MP
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: KRT14
disease_id: ORPHA:79397
disease_name: Epidermolysis bullosa simplex with mottled pigmentation
EBS with mottled pigmentation
EBS-MP
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: ABCC9
disease_id: OMIM:619719
disease_name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
Phenotype: Impaired renal tubular reabsorption of chloride (HP:0005579)
Associated genes and diseases:
gene_symbol: CLCNKB
disease_id: OMIM:607364
disease_name: BARTTER SYNDROME, TYPE 3
Phenotype: Renal tubular atrophy (HP:0000092)
Associated genes and diseases:
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: RPGRIP1L
disease_id: OMIM:619113
disease_name: COACH SYNDROME 3
gene_symbol: REN
disease_id: OMIM:613092
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
gene_symbol: TMEM67
disease_id: OMIM:613550
disease_name: NEPHRONOPHTHISIS 11
gene_symbol: XPNPEP3
disease_id: OMIM:613159
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
gene_symbol: GLIS2
disease_id: OMIM:611498
disease_name: NEPHRONOPHTHISIS 7
gene_symbol: NUP107
disease_id: OMIM:618348
disease_name: GALLOWAY-MOWAT SYNDROME 7
gene_symbol: NUP107
disease_id: OMIM:616730
disease_name: NEPHROTIC SYNDROME, TYPE 11
gene_symbol: NUP133
disease_id: OMIM:618349
disease_name: GALLOWAY-MOWAT SYNDROME 8
gene_symbol: CLCN5
disease_id: OMIM:310468
disease_name: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE
gene_symbol: CLCN5
disease_id: OMIM:308990
disease_name: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: NPHP4
disease_id: OMIM:606966
disease_name: NEPHRONOPHTHISIS 4
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
gene_symbol: MYO1E
disease_id: OMIM:614131
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: CEP83
disease_id: OMIM:615862
disease_name: NEPHRONOPHTHISIS 18
gene_symbol: MUC1
disease_id: OMIM:174000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2
gene_symbol: NPHP3
disease_id: OMIM:604387
disease_name: NEPHRONOPHTHISIS 3
gene_symbol: NPHP1
disease_id: OMIM:256100
disease_name: NEPHRONOPHTHISIS 1
gene_symbol: NPHS1
disease_id: OMIM:256300
disease_name: NEPHROTIC SYNDROME, TYPE 1
Phenotype: Tubular basement membrane disintegration (HP:0005583)
Associated genes and diseases:
gene_symbol: XPNPEP3
disease_id: OMIM:613159
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
gene_symbol: MUC1
disease_id: OMIM:174000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2
gene_symbol: NPHP1
disease_id: OMIM:256100
disease_name: NEPHRONOPHTHISIS 1
gene_symbol: TMEM67
disease_id: OMIM:613550
disease_name: NEPHRONOPHTHISIS 11
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated genes and diseases:
gene_symbol: C1GALT1C1
disease_id: OMIM:301110
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: MTRR
disease_id: ORPHA:2169
disease_name: Methylcobalamin deficiency type cblE
Functional methionine synthase deficiency type cblE
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: DGKE
disease_id: OMIM:615008
disease_name: NEPHROTIC SYNDROME, TYPE 7
gene_symbol: ADAMTS13
disease_id: OMIM:274150
disease_name: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY
gene_symbol: TMEM165
disease_id: OMIM:614727
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk
gene_symbol: CD46
disease_id: OMIM:612922
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
gene_symbol: CFB
disease_id: OMIM:612924
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
gene_symbol: CFI
disease_id: OMIM:612923
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
gene_symbol: COG1
disease_id: OMIM:611209
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
gene_symbol: THBD
disease_id: OMIM:612926
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
gene_symbol: CFHR3
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFH
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFHR1
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: C3
disease_id: OMIM:612925
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
Phenotype: Non-acidotic proximal tubulopathy (HP:0005574)
Associated genes and diseases:
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated genes and diseases:
gene_symbol: ACTN4
disease_id: OMIM:603278
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: BSND
disease_id: OMIM:602522
disease_name: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
gene_symbol: CLCN7
disease_id: OMIM:618541
disease_name: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: DZIP1L
disease_id: OMIM:617610
disease_name: POLYCYSTIC KIDNEY DISEASE 5
gene_symbol: DZIP1L
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: DCDC2
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: TMEM67
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: DHX16
disease_id: OMIM:618733
disease_name: NEUROMUSCULAR OCULOAUDITORY SYNDROME
gene_symbol: PDCD6IP
disease_id: OMIM:620047
disease_name: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: PKHD1
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
Phenotype: Decreased renal tubular phosphate excretion (HP:0005572)
Associated genes and diseases:
gene_symbol: GALNT3
disease_id: OMIM:211900
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Phenotype: Increased renal tubular phosphate reabsorption (HP:0005571)
Associated genes and diseases:
gene_symbol: GALNT3
disease_id: OMIM:211900
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Phenotype: Patchy palmoplantar hyperkeratosis (HP:0005588)
Associated genes and diseases:
gene_symbol: TRPV3
disease_id: OMIM:616400
disease_name: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
gene_symbol: DSP
disease_id: ORPHA:65282
disease_name: Carvajal syndrome
KWWH type II
Keratoderma with woolly hair type II
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
gene_symbol: GJA1
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: GJB3
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: GJB3
disease_id: OMIM:133200
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
gene_symbol: KDSR
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: GJB4
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
Phenotype: Profuse pigmented skin lesions (HP:0005587)
Associated genes and diseases:
gene_symbol: PRKAR1A
disease_id: OMIM:160980
disease_name: CARNEY COMPLEX, TYPE 1
gene_symbol: KIT
disease_id: ORPHA:280785
disease_name: Bullous diffuse cutaneous mastocytosis
Bullous DCM
Phenotype: Hyperpigmentation in sun-exposed areas (HP:0005586)
Associated genes and diseases:
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: UROD
disease_id: OMIM:176100
disease_name: PORPHYRIA CUTANEA TARDA
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
gene_symbol: POLH
disease_id: OMIM:278750
disease_name: XERODERMA PIGMENTOSUM, VARIANT TYPE
gene_symbol: POLH
disease_id: ORPHA:90342
disease_name: Xeroderma pigmentosum variant
XPV
gene_symbol: MC1R
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: OCA2
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: HPS1
disease_id: OMIM:203300
disease_name: HERMANSKY-PUDLAK SYNDROME 1
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated genes and diseases:
gene_symbol: KRT5
disease_id: ORPHA:158681
disease_name: Epidermolysis bullosa simplex with circinate migratory erythema
EBS with circinate migratory erythema
EBS-migr
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: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: SRD5A3
disease_id: ORPHA:324737
disease_name: SRD5A3-CDG
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: FERMT1
disease_id: OMIM:173650
disease_name: KINDLER SYNDROME
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
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: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Phenotype: Absence of renal corticomedullary differentiation (HP:0005564)
Associated genes and diseases:
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: INVS
disease_id: OMIM:602088
disease_name: NEPHRONOPHTHISIS 2
gene_symbol: PBX1
disease_id: OMIM:617641
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
gene_symbol: PAX2
disease_id: OMIM:120330
disease_name: PAPILLORENAL SYNDROME
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated genes and diseases:
gene_symbol: KCTD1
disease_id: ORPHA:2036
disease_name: Scalp-ear-nipple syndrome
Finlay-Marks syndrome
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC3
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: SLC6A17
disease_id: ORPHA:457212
disease_name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
gene_symbol: REST
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: DIS3L2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: BRCA2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: CTR9
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIP13
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: WT1
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIM28
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: POU6F2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: H19
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
Phenotype: Abnormal zygomatic arch morphology (HP:0005557)
Associated genes and diseases:
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Phenotype: Acanthocytosis (HP:0001927)
Associated genes and diseases:
gene_symbol: CYP4F22
disease_id: OMIM:604777
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: MTTP
disease_id: OMIM:200100
disease_name: ABETALIPOPROTEINEMIA
gene_symbol: XK
disease_id: OMIM:300842
disease_name: MCLEOD SYNDROME
gene_symbol: GATA1
disease_id: OMIM:300367
disease_name: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
gene_symbol: VPS13A
disease_id: OMIM:200150
disease_name: CHOREOACANTHOCYTOSIS
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: KCNN4
disease_id: OMIM:616689
disease_name: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
gene_symbol: CAD
disease_id: OMIM:616457
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: SPTB
disease_id: OMIM:616649
disease_name: SPHEROCYTOSIS, TYPE 2
gene_symbol: APOB
disease_id: OMIM:615558
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
gene_symbol: SAR1B
disease_id: ORPHA:71
disease_name: Chylomicron retention disease
Anderson disease
CMRD
CRD
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
Phenotype: Megakaryocytopenia (HP:0005548)
Associated genes and diseases:
gene_symbol: FYB1
disease_id: OMIM:273900
disease_name: THROMBOCYTOPENIA 3
gene_symbol: MPL
disease_id: OMIM:604498
disease_name: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: SLC30A7
disease_id: OMIM:620501
disease_name: ZIEGLER-HUANG SYNDROME
gene_symbol: GNA14
disease_id: ORPHA:1063
disease_name: Tufted angioma
Nakagawa angioblastoma
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: HOXA11
disease_id: OMIM:605432
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
gene_symbol: KIF15
disease_id: OMIM:619981
disease_name: BRADDOCK-CAREY SYNDROME 2
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated genes and diseases:
gene_symbol: GATA1
disease_id: OMIM:159595
disease_name: MYELOPROLIFERATIVE SYNDROME, TRANSIENT
gene_symbol: BCR
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: ABL1
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: RUNX1
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: SH2B3
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: CALR
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: JAK2
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: MPL
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: GATA2
disease_id: ORPHA:228423
disease_name: GATA2 deficiency spectrum
GATA binding protein 2 deficiency spectrum
gene_symbol: PDGFRA
disease_id: OMIM:607685
disease_name: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC
Phenotype: Impaired renal concentrating ability (HP:0004727)
Associated genes and diseases:
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
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: BSND
disease_id: OMIM:602522
disease_name: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
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: FAM20A
disease_id: ORPHA:1031
disease_name: Enamel-renal syndrome
Amelogenesis imperfecta-nephrocalcinosis syndrome
gene_symbol: FAM20A
disease_id: OMIM:204690
disease_name: AMELOGENESIS IMPERFECTA, TYPE IG
gene_symbol: NPHP1
disease_id: OMIM:266900
disease_name: SENIOR-LOKEN SYNDROME 1
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5