TaoMedAI/RareMedData huggingface dataset:
Phenotype: Proximal/middle symphalangism of 5th toe (HP:0100482)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal (HP:0100483)
Associated genes and diseases:
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
Phenotype: Depletion of components of the alternative complement pathway (HP:0005389)
Associated genes and diseases:
gene_symbol: CFH
disease_id: OMIM:609814
disease_name: COMPLEMENT FACTOR H DEFICIENCY
Phenotype: Defective B cell activation (HP:0005384)
Associated genes and diseases:
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: CASP8
disease_id: OMIM:607271
disease_name: CASPASE 8 DEFICIENCY
Phenotype: Renotubular dysgenesis (HP:0008660)
Associated genes and diseases:
gene_symbol: ACE
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: AGT
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: AGTR1
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: REN
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
Phenotype: Enlarged labia minora (HP:0008683)
Associated genes and diseases:
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
Phenotype: Gonadal dysgenesis, male (HP:0008668)
Associated genes and diseases:
gene_symbol: DHH
disease_id: OMIM:233420
disease_name: 46,XY SEX REVERSAL 7
Phenotype: Recurrent meningococcal disease (HP:0005381)
Associated genes and diseases:
gene_symbol: C7
disease_id: OMIM:610102
disease_name: COMPLEMENT COMPONENT 7 DEFICIENCY
gene_symbol: C5
disease_id: OMIM:609536
disease_name: COMPLEMENT COMPONENT 5 DEFICIENCY
gene_symbol: C6
disease_id: OMIM:612446
disease_name: COMPLEMENT COMPONENT 6 DEFICIENCY
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: MBL2
disease_id: OMIM:614372
disease_name: MANNOSE-BINDING LECTIN DEFICIENCY
gene_symbol: CFB
disease_id: OMIM:615561
disease_name: COMPLEMENT FACTOR B DEFICIENCY
Phenotype: Defective B cell differentiation (HP:0005357)
Associated genes and diseases:
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
Phenotype: Decreased circulating complement factor I concentration (HP:0005356)
Associated genes and diseases:
gene_symbol: C1QA
disease_id: OMIM:613652
disease_name: C1q DEFICIENCY
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
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
Phenotype: Absent cellular immunity (HP:0005354)
Associated genes and diseases:
gene_symbol: ADA
disease_id: ORPHA:277
disease_name: Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA deficiency
SCID due to adenosine deaminase deficiency
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: JAK3
disease_id: ORPHA:35078
disease_name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ SCID due to JAK3 deficiency
gene_symbol: AK2
disease_id: OMIM:267500
disease_name: RETICULAR DYSGENESIS
Phenotype: Hypoammonemia (HP:0100493)
Associated genes and diseases:
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated genes and diseases:
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: CYP26C1
disease_id: ORPHA:398189
disease_name: Focal facial dermal dysplasia type IV
FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial preauricular dysplasia
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
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:98850
disease_name: Aggressive systemic mastocytosis
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: CBL
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: RUNX1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
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: 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
Phenotype: Mastocytosis (HP:0100495)
Associated genes and diseases:
gene_symbol: KIT
disease_id: ORPHA:280794
disease_name: Pseudoxanthomatous diffuse cutaneous mastocytosis
Infiltrative small vesicular DCM
Infiltrative small vesicular diffuse cutaneous mastocytosis
Pseudoxanthomatous DCM
gene_symbol: KIT
disease_id: ORPHA:280785
disease_name: Bullous diffuse cutaneous mastocytosis
Bullous DCM
gene_symbol: KIT
disease_id: OMIM:154800
disease_name: MASTOCYTOSIS, CUTANEOUS
Phenotype: Tibial deviation of toes (HP:0100499)
Associated genes and diseases:
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
Phenotype: Severe T-cell immunodeficiency (HP:0005352)
Associated genes and diseases:
gene_symbol: SMARCAL1
disease_id: ORPHA:1830
disease_name: Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: FOXN1
disease_id: OMIM:601705
disease_name: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated genes and diseases:
gene_symbol: DNAJB11
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: GANAB
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD2
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: NEK8
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG5
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: IFT140
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG9
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: BICC1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: SLC26A1
disease_id: OMIM:167030
disease_name: NEPHROLITHIASIS, CALCIUM OXALATE
gene_symbol: OPLAH
disease_id: OMIM:260005
disease_name: 5-OXOPROLINASE DEFICIENCY
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: ADCY10
disease_id: ORPHA:2197
disease_name: Idiopathic hypercalciuria
gene_symbol: ADCY10
disease_id: OMIM:143870
disease_name: HYPERCALCIURIA, ABSORPTIVE, 2
gene_symbol: GRHPR
disease_id: OMIM:260000
disease_name: HYPEROXALURIA, PRIMARY, TYPE II
gene_symbol: TBC1D7
disease_id: OMIM:248000
disease_name: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: HOGA1
disease_id: OMIM:613616
disease_name: HYPEROXALURIA, PRIMARY, TYPE III
gene_symbol: HOGA1
disease_id: ORPHA:93600
disease_name: Primary hyperoxaluria type 3
gene_symbol: SLC36A2
disease_id: OMIM:138500
disease_name: HYPERGLYCINURIA
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated genes and diseases:
gene_symbol: CYB5A
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: CYP17A1
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: ESR1
disease_id: ORPHA:785
disease_name: Estrogen resistance 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: 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: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: FSHR
disease_id: ORPHA:64739
disease_name: Ovarian hyperstimulation syndrome
OHSS
gene_symbol: CYP19A1
disease_id: ORPHA:91
disease_name: Aromatase deficiency
Congenital estrogen deficiency
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
Phenotype: Congenital megaureter (HP:0008676)
Associated genes and diseases:
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: TBX18
disease_id: OMIM:143400
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
Phenotype: Congenital nephrotic syndrome (HP:0008677)
Associated genes and diseases:
gene_symbol: LAMB2
disease_id: ORPHA:2670
disease_name: Pierson syndrome
Microcoria-congenital nephrosis syndrome
gene_symbol: TP53RK
disease_id: OMIM:617730
disease_name: GALLOWAY-MOWAT SYNDROME 4
gene_symbol: NPHS1
disease_id: OMIM:256300
disease_name: NEPHROTIC SYNDROME, TYPE 1
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated genes and diseases:
gene_symbol: FREM2
disease_id: OMIM:617666
disease_name: FRASER SYNDROME 2
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: PRRX1
disease_id: OMIM:202650
disease_name: AGNATHIA-OTOCEPHALY COMPLEX
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: NEK1
disease_id: OMIM:263520
disease_name: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
Phenotype: Decreased circulating complement factor H concentration (HP:0005369)
Associated genes and diseases:
gene_symbol: CFH
disease_id: OMIM:609814
disease_name: COMPLEMENT FACTOR H DEFICIENCY
gene_symbol: CFH
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: CFHR3
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
Phenotype: Recurrent streptococcus pneumoniae infections (HP:0005366)
Associated genes and diseases:
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: MYD88
disease_id: ORPHA:70592
disease_name: Transient predisposition to invasive pyogenic bacterial infection
gene_symbol: IRAK4
disease_id: ORPHA:70592
disease_name: Transient predisposition to invasive pyogenic bacterial infection
Phenotype: Severe B lymphocytopenia (HP:0005365)
Associated genes and diseases:
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: RAG1
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: RAG2
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: DCLRE1C
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: NFKB2
disease_id: ORPHA:293978
disease_name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
DAVID syndrome
Phenotype: Humoral immunodeficiency (HP:0005363)
Associated genes and diseases:
gene_symbol: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Phenotype: Susceptibility to chickenpox (HP:0005360)
Associated genes and diseases:
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
Phenotype: Sleepy facial expression (HP:0005335)
Associated genes and diseases:
gene_symbol: PMP22
disease_id: ORPHA:98916
disease_name: Acute inflammatory demyelinating polyradiculoneuropathy
AIDP
Acute idiopathic demyelinating polyneuropathy
Acute inflammatory polyneuropathy
GBS, acute inflammatory demyelinating polyradiculoneuropathic form
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
gene_symbol: MTMR14
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: DNM2
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
Phenotype: Recurrent mandibular subluxations (HP:0005332)
Associated genes and diseases:
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
Phenotype: Fixed facial expression (HP:0005329)
Associated genes and diseases:
gene_symbol: MAPT
disease_id: ORPHA:240094
disease_name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
PSP-PAGF
PSP-pure akinesia with gait freezing
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
Phenotype: Inspiratory stridor (HP:0005348)
Associated genes and diseases:
gene_symbol: KIF22
disease_id: ORPHA:93360
disease_name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
SEMD-MD
SEMDJL2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
gene_symbol: EXOSC8
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC9
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: AGTPBP1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC3
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: VRK1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: SLC25A46
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
gene_symbol: MIR140
disease_id: OMIM:618618
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SCN4A
disease_id: OMIM:168300
disease_name: PARAMYOTONIA CONGENITA OF VON EULENBURG
gene_symbol: D2HGDH
disease_id: OMIM:600721
disease_name: D-2-HYDROXYGLUTARIC ACIDURIA 1
gene_symbol: SERPING1
disease_id: ORPHA:100050
disease_name: Hereditary angioedema type 1
HAE 1
HAE-I
Hereditary angioneurotic edema type 1
gene_symbol: IGHMBP2
disease_id: OMIM:604320
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1
gene_symbol: LAMA3
disease_id: ORPHA:2407
disease_name: Laryngo-onycho-cutaneous syndrome
LOC syndrome
LOGIC syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Shabbir syndrome
gene_symbol: SLC52A3
disease_id: OMIM:211500
disease_name: FAZIO-LONDE DISEASE
Phenotype: Tracheal cartilaginous sleeve (HP:0005347)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
Phenotype: Renal tubular epithelial necrosis (HP:0008682)
Associated genes and diseases:
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: CPT2
disease_id: ORPHA:228302
disease_name: Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
gene_symbol: CPT2
disease_id: ORPHA:228308
disease_name: Carnitine palmitoyl transferase II deficiency, neonatal form
CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
gene_symbol: SLC22A12
disease_id: OMIM:220150
disease_name: HYPOURICEMIA, RENAL, 1
Phenotype: Hypoplasia of the prostate (HP:0008687)
Associated genes and diseases:
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated genes and diseases:
gene_symbol: MBTPS2
disease_id: ORPHA:85284
disease_name: BRESEK syndrome
BRESHECK syndrome
gene_symbol: GRIP1
disease_id: OMIM:617667
disease_name: FRASER SYNDROME 3
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: CCNQ
disease_id: OMIM:300707
disease_name: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: WNT4
disease_id: ORPHA:139466
disease_name: SERKAL syndrome
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1