TaoMedAI/RareMedData huggingface dataset:
Phenotype: Bloodstream infectious agent (HP:0031863)
Associated genes and diseases:
gene_symbol: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
gene_symbol: CD27
disease_id: OMIM:615122
disease_name: LYMPHOPROLIFERATIVE SYNDROME 2
gene_symbol: TRAC
disease_id: OMIM:615387
disease_name: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: PIK3R1
disease_id: OMIM:616005
disease_name: IMMUNODEFICIENCY 36
gene_symbol: CD28
disease_id: OMIM:620901
disease_name: OMIM:620901
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: IKZF3
disease_id: OMIM:619437
disease_name: IMMUNODEFICIENCY 84
gene_symbol: PGM3
disease_id: OMIM:615816
disease_name: IMMUNODEFICIENCY 23
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: PIK3CD
disease_id: ORPHA:693661
disease_name: ORPHA:693661
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: TPP2
disease_id: OMIM:619220
disease_name: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
gene_symbol: IL2RB
disease_id: OMIM:618495
disease_name: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
Phenotype: Bacteremia (HP:0031864)
Associated genes and diseases:
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
Phenotype: Neck hypertonia (HP:0031867)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
Phenotype: Optic ataxia (HP:0031868)
Associated genes and diseases:
gene_symbol: APOE
disease_id: OMIM:607822
disease_name: ALZHEIMER DISEASE 3
gene_symbol: PSEN1
disease_id: OMIM:607822
disease_name: ALZHEIMER DISEASE 3
Phenotype: Recurrent joint dislocation (HP:0031869)
Associated genes and diseases:
gene_symbol: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: RYR1
disease_id: ORPHA:178145
disease_name: Moderate multiminicore disease with hand involvement
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
gene_symbol: LMNA
disease_id: OMIM:212112
disease_name: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: CHST14
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: DSE
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: COL1A1
disease_id: OMIM:619115
disease_name: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1
gene_symbol: COL5A2
disease_id: OMIM:130010
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Phosphohydroxylysinuria (HP:0031870)
Associated genes and diseases:
gene_symbol: PHYKPL
disease_id: OMIM:615011
disease_name: PHOSPHOHYDROXYLYSINURIA
Phenotype: Early chronotype (HP:0031873)
Associated genes and diseases:
gene_symbol: PER2
disease_id: OMIM:604348
disease_name: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
gene_symbol: CSNK1D
disease_id: OMIM:615224
disease_name: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
gene_symbol: TIMELESS
disease_id: OMIM:620015
disease_name: ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4
gene_symbol: PER3
disease_id: OMIM:616882
disease_name: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3
Phenotype: Late chronotype (HP:0031874)
Associated genes and diseases:
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
Phenotype: Abnormal circulating hepcidin concentration (HP:0031875)
Associated genes and diseases:
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: TMPRSS6
disease_id: OMIM:206200
disease_name: IRON-REFRACTORY IRON DEFICIENCY ANEMIA
gene_symbol: TMPRSS6
disease_id: ORPHA:209981
disease_name: IRIDA syndrome
Iron-refractory iron deficiency anemia
gene_symbol: BMP6
disease_id: OMIM:620121
disease_name: IRON OVERLOAD, SUSCEPTIBILITY TO
gene_symbol: STAB1
disease_id: OMIM:620729
disease_name: HYPERFERRITINEMIA
Phenotype: Decreased circulating hepcidin concentration (HP:0031876)
Associated genes and diseases:
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
Phenotype: Elevated circulating hepcidin concentration (HP:0031877)
Associated genes and diseases:
gene_symbol: TMPRSS6
disease_id: OMIM:206200
disease_name: IRON-REFRACTORY IRON DEFICIENCY ANEMIA
gene_symbol: TMPRSS6
disease_id: ORPHA:209981
disease_name: IRIDA syndrome
Iron-refractory iron deficiency anemia
gene_symbol: BMP6
disease_id: OMIM:620121
disease_name: IRON OVERLOAD, SUSCEPTIBILITY TO
gene_symbol: STAB1
disease_id: OMIM:620729
disease_name: HYPERFERRITINEMIA
Phenotype: Acromicria (HP:0031878)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
gene_symbol: GH1
disease_id: OMIM:612781
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
gene_symbol: RTL1
disease_id: ORPHA:254525
disease_name: Temple syndrome due to paternal 14q32.2 microdeletion
Paternal del(14)(q32.2)
gene_symbol: DLK1
disease_id: ORPHA:254525
disease_name: Temple syndrome due to paternal 14q32.2 microdeletion
Paternal del(14)(q32.2)
gene_symbol: MEG3
disease_id: ORPHA:254525
disease_name: Temple syndrome due to paternal 14q32.2 microdeletion
Paternal del(14)(q32.2)
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
Phenotype: Increased proinsulin:insulin ratio (HP:0031883)
Associated genes and diseases:
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
Phenotype: Abnormal CSF glucose concentration (HP:0031884)
Associated genes and diseases:
gene_symbol: SLC2A1
disease_id: OMIM:612126
disease_name: GLUT1 DEFICIENCY SYNDROME 2
gene_symbol: SLC2A1
disease_id: OMIM:606777
disease_name: GLUT1 DEFICIENCY SYNDROME 1
gene_symbol: SLC2A1
disease_id: OMIM:608885
disease_name: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
gene_symbol: SLC2A1
disease_id: ORPHA:168577
disease_name: Hereditary cryohydrocytosis with reduced stomatin
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
gene_symbol: SLC2A1
disease_id: ORPHA:71277
disease_name: Classic glucose transporter type 1 deficiency syndrome
Classic GLUT1 deficiency syndrome
Classic GLUT1-DS
De Vivo disease
Encephalopathy due to GLUT1 deficiency
gene_symbol: TRAF3
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: UNC93B1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TICAM1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TLR3
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TBK1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
Phenotype: Abnormal chylomicron concentration (HP:0031887)
Associated genes and diseases:
gene_symbol: APOC2
disease_id: OMIM:207750
disease_name: APOLIPOPROTEIN C-II DEFICIENCY
gene_symbol: APOA5
disease_id: OMIM:144650
disease_name: HYPERLIPOPROTEINEMIA, TYPE V
gene_symbol: GPIHBP1
disease_id: OMIM:615947
disease_name: HYPERLIPOPROTEINEMIA, TYPE ID
gene_symbol: LPL
disease_id: OMIM:238600
disease_name: HYPERLIPOPROTEINEMIA, TYPE I
Phenotype: Abnormal VLDL cholesterol concentration (HP:0031889)
Associated genes and diseases:
gene_symbol: APOA5
disease_id: OMIM:145750
disease_name: HYPERTRIGLYCERIDEMIA, FAMILIAL
gene_symbol: APOA5
disease_id: OMIM:144650
disease_name: HYPERLIPOPROTEINEMIA, TYPE V
gene_symbol: LCAT
disease_id: OMIM:136120
disease_name: FISH-EYE DISEASE
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: LPL
disease_id: OMIM:144250
disease_name: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3
Phenotype: Increased urine urobilinogen (HP:0031890)
Associated genes and diseases:
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
Phenotype: Decreased total eosinophil count (HP:0031891)
Associated genes and diseases:
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
Phenotype: Abnormal coagulation factor V activity (HP:0031899)
Associated genes and diseases:
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: MCFD2
disease_id: OMIM:613625
disease_name: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
gene_symbol: MCFD2
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: F5
disease_id: OMIM:227400
disease_name: FACTOR V DEFICIENCY
gene_symbol: LMAN1
disease_id: OMIM:227300
disease_name: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1
gene_symbol: LMAN1
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: AHCY
disease_id: ORPHA:88618
disease_name: S-adenosylhomocysteine hydrolase deficiency
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated genes and diseases:
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: SRP54
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: SBDS
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: DNAJC21
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
Phenotype: Glomus jugular tumor (HP:0003001)
Associated genes and diseases:
gene_symbol: SDHAF2
disease_id: OMIM:601650
disease_name: PARAGANGLIOMAS 2
gene_symbol: SDHD
disease_id: OMIM:168000
disease_name: PARAGANGLIOMAS 1
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: SDHB
disease_id: OMIM:115310
disease_name: PARAGANGLIOMAS 4
gene_symbol: SDHC
disease_id: OMIM:605373
disease_name: PARAGANGLIOMAS 3
Phenotype: Ganglioneuroma (HP:0003005)
Associated genes and diseases:
gene_symbol: PHOX2B
disease_id: OMIM:613013
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
gene_symbol: PHOX2B
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: PHOX2B
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
gene_symbol: EDN3
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: GDNF
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: BDNF
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: LBX1
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: MYO1H
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: RET
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: KIF1B
disease_id: OMIM:256700
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
gene_symbol: PIK3CA
disease_id: ORPHA:168984
disease_name: CLAPO syndrome
gene_symbol: ASCL1
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
Phenotype: Bulging epiphyses (HP:0003013)
Associated genes and diseases:
gene_symbol: VDR
disease_id: OMIM:277440
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 2A
gene_symbol: CYP2R1
disease_id: OMIM:600081
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: CLCN5
disease_id: OMIM:300554
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
gene_symbol: CLCN5
disease_id: OMIM:300009
disease_name: DENT DISEASE 1
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
Phenotype: Enlargement of the wrists (HP:0003020)
Associated genes and diseases:
gene_symbol: VDR
disease_id: OMIM:277440
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 2A
gene_symbol: AIFM1
disease_id: ORPHA:83629
disease_name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
H-SMD
Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-SEMD syndrome
Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
gene_symbol: CYP2R1
disease_id: OMIM:600081
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
gene_symbol: CYP2R1
disease_id: ORPHA:289157
disease_name: Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: CYP27B1
disease_id: ORPHA:289157
disease_name: Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
gene_symbol: CLCN5
disease_id: OMIM:300554
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
gene_symbol: CLCN5
disease_id: OMIM:300009
disease_name: DENT DISEASE 1
gene_symbol: DMP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: ENPP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
Phenotype: Metaphyseal cupping (HP:0003021)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: CYP3A4
disease_id: OMIM:619073
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 3
gene_symbol: MMP13
disease_id: OMIM:602111
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE
gene_symbol: COL10A1
disease_id: ORPHA:174
disease_name: Metaphyseal chondrodysplasia, Schmid type
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: TRIP11
disease_id: OMIM:184260
disease_name: ODONTOCHONDRODYSPLASIA 1
gene_symbol: PTH1R
disease_id: OMIM:156400
disease_name: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
gene_symbol: PTH1R
disease_id: ORPHA:50945
disease_name: Blomstrand lethal chondrodysplasia
BLC
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: HDAC6
disease_id: OMIM:300863
disease_name: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
gene_symbol: COL2A1
disease_id: OMIM:151210
disease_name: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
gene_symbol: COL2A1
disease_id: ORPHA:85166
disease_name: Platyspondylic dysplasia, Torrance type
PLSD-T
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
gene_symbol: COL11A2
disease_id: OMIM:614524
disease_name: FIBROCHONDROGENESIS 2
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
Phenotype: Bowing of limbs due to multiple fractures (HP:0003023)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: WNT1
disease_id: OMIM:615220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XV