TaoMedAI/RareMedData huggingface dataset:
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated genes and diseases:
gene_symbol: MAPT
disease_id: ORPHA:240071
disease_name: Classic progressive supranuclear palsy syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
gene_symbol: NLRP3
disease_id: OMIM:191900
disease_name: MUCKLE-WELLS SYNDROME
gene_symbol: NLRP3
disease_id: OMIM:148200
disease_name: KERATOENDOTHELIITIS FUGAX HEREDITARIA
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: AP1G1
disease_id: OMIM:619548
disease_name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
Phenotype: Abnormal pulmonary artery physiology (HP:0030967)
Associated genes and diseases:
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated genes and diseases:
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: BICD2
disease_id: OMIM:615290
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
gene_symbol: KCNE1
disease_id: ORPHA:90647
disease_name: Jervell and Lange-Nielsen syndrome
Long QT interval-deafness syndrome
Long QT interval-hearing loss syndrome
gene_symbol: KCNQ1
disease_id: ORPHA:90647
disease_name: Jervell and Lange-Nielsen syndrome
Long QT interval-deafness syndrome
Long QT interval-hearing loss syndrome
gene_symbol: COMP
disease_id: ORPHA:93308
disease_name: Multiple epiphyseal dysplasia type 1
EDM1
MED1
Polyepiphyseal dysplasia type 1
gene_symbol: SLC2A9
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: SLC22A12
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: PYGL
disease_id: ORPHA:369
disease_name: Glycogen storage disease due to liver glycogen phosphorylase deficiency
GSD due to liver glycogen phosphorylase deficiency
GSD type 6
GSD type VI
Glycogen storage disease type 6
Glycogen storage disease type VI
Glycogenosis due to liver glycogen phosphorylase deficiency
Glycogenosis type 6
Glycogenosis type VI
Hepatic glycogen phosphorylase deficiency
Hepatic phosphorylase deficiency
Hers disease
Liver glycogen phosphorylase deficiency
gene_symbol: PYGM
disease_id: ORPHA:368
disease_name: Glycogen storage disease due to muscle glycogen phosphorylase deficiency
GSD due to muscle glycogen phosphorylase deficiency
GSD type 5
GSD type V
Glycogen storage disease type 5
Glycogen storage disease type V
Glycogenosis due to muscle glycogen phosphorylase deficiency
Glycogenosis type 5
Glycogenosis type V
McArdle disease
Myophosphorylase deficiency
gene_symbol: COL9A1
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COL9A2
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COL9A3
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
Phenotype: Cryptozoospermia (HP:0030974)
Associated genes and diseases:
gene_symbol: SYCP2
disease_id: OMIM:258150
disease_name: SPERMATOGENIC FAILURE 1
gene_symbol: CATIP
disease_id: OMIM:619379
disease_name: SPERMATOGENIC FAILURE 54
gene_symbol: MEIOB
disease_id: OMIM:617706
disease_name: SPERMATOGENIC FAILURE 22
gene_symbol: NR5A1
disease_id: OMIM:613957
disease_name: SPERMATOGENIC FAILURE 8
gene_symbol: TEX15
disease_id: OMIM:617960
disease_name: SPERMATOGENIC FAILURE 25
gene_symbol: TDRD9
disease_id: OMIM:618110
disease_name: SPERMATOGENIC FAILURE 30
Phenotype: Abnormal factor VIII activity (HP:0030976)
Associated genes and diseases:
gene_symbol: F8
disease_id: OMIM:306700
disease_name: HEMOPHILIA A
gene_symbol: F8
disease_id: ORPHA:177926
disease_name: Bleeding disorder in hemophilia A carriers
gene_symbol: F8
disease_id: ORPHA:169805
disease_name: Moderate hemophilia A
Moderate congenital F8 deficiency
Moderate congenital factor VIII deficiency
gene_symbol: F8
disease_id: ORPHA:169802
disease_name: Severe hemophilia A
Severe congenital F8 deficiency
Severe congenital factor VIII deficiency
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: VWF
disease_id: OMIM:277480
disease_name: VON WILLEBRAND DISEASE, TYPE 3
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: MCFD2
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: MCFD2
disease_id: OMIM:613625
disease_name: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
gene_symbol: SOS1
disease_id: OMIM:610733
disease_name: NOONAN SYNDROME 4
gene_symbol: THBS2
disease_id: OMIM:620865
disease_name: OMIM:620865
Phenotype: Increased factor VIII activity (HP:0030977)
Associated genes and diseases:
gene_symbol: F8
disease_id: OMIM:301071
disease_name: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT
Phenotype: Decreased CSF/serum albumin ratio (HP:0030978)
Associated genes and diseases:
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
Phenotype: Reduced brain glutamine level by MRS (HP:0030980)
Associated genes and diseases:
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
Phenotype: Abnormal CSF/serum albumin ratio (HP:0030981)
Associated genes and diseases:
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
Phenotype: Ovarian thecoma (HP:0030983)
Associated genes and diseases:
gene_symbol: DICER1
disease_id: OMIM:180295
disease_name: RHABDOMYOSARCOMA, EMBRYONAL, 2
Phenotype: Decreased serum bile acid concentration (HP:0030985)
Associated genes and diseases:
gene_symbol: AMACR
disease_id: OMIM:214950
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
gene_symbol: SLC51B
disease_id: OMIM:619481
disease_name: BILE ACID MALABSORPTION, PRIMARY, 2
Phenotype: Ectopic fovea (HP:0025007)
Associated genes and diseases:
gene_symbol: FZD4
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
Phenotype: Abnormal glomerular capillary morphology (HP:0025006)
Associated genes and diseases:
gene_symbol: CFHR5
disease_id: OMIM:614809
disease_name: C3 GLOMERULOPATHY 3
Phenotype: Thickening of glomerular capillary wall (HP:0025005)
Associated genes and diseases:
gene_symbol: CFHR5
disease_id: OMIM:614809
disease_name: C3 GLOMERULOPATHY 3
Phenotype: Foveal atrophy (HP:0025010)
Associated genes and diseases:
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: RAB28
disease_id: OMIM:615374
disease_name: CONE-ROD DYSTROPHY 18
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated genes and diseases:
gene_symbol: CLDN1
disease_id: OMIM:607626
disease_name: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
gene_symbol: MAP2K1
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: NRAS
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: BRAF
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
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: RFXANK
disease_id: OMIM:620815
disease_name: MHC CLASS II DEFICIENCY 2
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: ABCB4
disease_id: ORPHA:69663
disease_name: Low phospholipid-associated cholelithiasis
ABCB4-related cholelithiasis
LPAC
gene_symbol: DCDC2
disease_id: OMIM:617394
disease_name: SCLEROSING CHOLANGITIS, NEONATAL
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
Phenotype: Abnormal pancreatic duct morphology (HP:0030992)
Associated genes and diseases:
gene_symbol: NEK8
disease_id: ORPHA:294415
disease_name: Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome
Renohepaticopancreatic dysplasia
gene_symbol: NPHP3
disease_id: ORPHA:294415
disease_name: Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome
Renohepaticopancreatic dysplasia
gene_symbol: CTRC
disease_id: ORPHA:103918
disease_name: Tropical pancreatitis
TCP
Tropical calcific chronic pancreatitis
gene_symbol: SPINK1
disease_id: ORPHA:103918
disease_name: Tropical pancreatitis
TCP
Tropical calcific chronic pancreatitis
gene_symbol: FLNB
disease_id: ORPHA:1190
disease_name: Atelosteogenesis type I
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
Phenotype: Megaduodenum (HP:0030996)
Associated genes and diseases:
gene_symbol: RAD21
disease_id: OMIM:611376
disease_name: MUNGAN SYNDROME
gene_symbol: MYH11
disease_id: OMIM:619350
disease_name: VISCERAL MYOPATHY 2
gene_symbol: ACTG2
disease_id: OMIM:155310
disease_name: VISCERAL MYOPATHY
Phenotype: Atretic vas deferens (HP:0030997)
Associated genes and diseases:
gene_symbol: HNF1B
disease_id: OMIM:137920
disease_name: RENAL CYSTS AND DIABETES SYNDROME
Phenotype: Cerebrospinal fluid rhinorrhoea (HP:0030998)
Associated genes and diseases:
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
Phenotype: Abnormal capillary physiology (HP:0025018)
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: XPNPEP2
disease_id: ORPHA:100057
disease_name: Renin-angiotensin-aldosterone system-blocker-induced angioedema
ACE inhibitor-related acquired angioedema
ACEI-related acquired angioedema
Acquired angioedema with normal C1 inhibitor
Acquired angioedema with normal C1INH
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
RAE
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: FSHR
disease_id: ORPHA:64739
disease_name: Ovarian hyperstimulation syndrome
OHSS
Phenotype: Capillary fragility (HP:0025017)
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
Phenotype: Status cribrosum (HP:0025012)
Associated genes and diseases:
gene_symbol: HTRA1
disease_id: OMIM:616779
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
Phenotype: Pyriform aperture stenosis (HP:0025011)
Associated genes and diseases:
gene_symbol: SHH
disease_id: OMIM:147250
disease_name: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Phenotype: Subcutaneous spheroids (HP:0025014)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: OMIM:130000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A2
disease_id: OMIM:130010
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
Phenotype: Decerebrate rigidity (HP:0025013)
Associated genes and diseases:
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: ARSA
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: PSAP
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: GALC
disease_id: OMIM:245200
disease_name: KRABBE DISEASE
gene_symbol: ASPA
disease_id: ORPHA:314911
disease_name: Severe Canavan disease
Infantile Canavan disease
Neonatal Canavan disease
gene_symbol: GLB1
disease_id: ORPHA:79255
disease_name: GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis
Norman-Landing disease
Phenotype: Decreased erythrocyte sedimentation rate (HP:0025022)
Associated genes and diseases:
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
Phenotype: Rectal atresia (HP:0025023)
Associated genes and diseases:
gene_symbol: FREM2
disease_id: OMIM:617666
disease_name: FRASER SYNDROME 2
gene_symbol: RAD51C
disease_id: OMIM:613390
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP O
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
Phenotype: Megarectum (HP:0025024)
Associated genes and diseases:
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
Phenotype: Rectovestibular fistula (HP:0025025)
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
Phenotype: Osteoma cutis (HP:0025027)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: OMIM:166350
disease_name: OSSEOUS HETEROPLASIA, PROGRESSIVE
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
Phenotype: Abnormal proerythroblast morphology (HP:0025035)
Associated genes and diseases:
gene_symbol: KIF23
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: RACGAP1
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
Phenotype: Thalamic edema (HP:0025040)
Associated genes and diseases:
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
Phenotype: Thalamic calcification (HP:0025041)
Associated genes and diseases:
gene_symbol: JAM2
disease_id: OMIM:618824
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE
gene_symbol: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
gene_symbol: MYORG
disease_id: OMIM:618317
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
gene_symbol: PDGFB
disease_id: OMIM:615483
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
Phenotype: Abnormality of mesenteric lymph nodes (HP:0025042)
Associated genes and diseases:
gene_symbol: IFNGR1
disease_id: OMIM:209950
disease_name: IMMUNODEFICIENCY 27A
Phenotype: Enlarged mesenteric lymph node (HP:0025043)
Associated genes and diseases:
gene_symbol: IFNGR1
disease_id: OMIM:209950
disease_name: IMMUNODEFICIENCY 27A
Phenotype: Lung abscess (HP:0025044)
Associated genes and diseases:
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
Phenotype: Abnormal brain choline level by MRS (HP:0025047)
Associated genes and diseases:
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: NDUFAF6
disease_id: OMIM:618239
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: GRM7
disease_id: OMIM:618922
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: CNP
disease_id: OMIM:619071
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 20
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: NAXE
disease_id: OMIM:617186
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
Phenotype: Abnormal brain creatine level by MRS (HP:0025049)
Associated genes and diseases:
gene_symbol: SLC6A8
disease_id: OMIM:300352
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
gene_symbol: GAMT
disease_id: OMIM:612736
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
gene_symbol: GATM
disease_id: OMIM:612718
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
Phenotype: Reduced brain creatine level by MRS (HP:0025051)
Associated genes and diseases:
gene_symbol: SLC6A8
disease_id: OMIM:300352
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
gene_symbol: GAMT
disease_id: OMIM:612736
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
gene_symbol: GATM
disease_id: OMIM:612718
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 3