TaoMedAI/RareMedData huggingface dataset:
Phenotype: Hypercoagulability (HP:0100724)
Associated genes and diseases:
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: HBB
disease_id: ORPHA:231222
disease_name: Beta-thalassemia intermedia
gene_symbol: F5
disease_id: OMIM:188055
disease_name: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
gene_symbol: DLD
disease_id: ORPHA:2394
disease_name: Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
gene_symbol: F9
disease_id: OMIM:300807
disease_name: THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT
gene_symbol: THBD
disease_id: OMIM:614486
disease_name: THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT
gene_symbol: PROS1
disease_id: OMIM:614514
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: PROS1
disease_id: OMIM:612336
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: HRG
disease_id: OMIM:613116
disease_name: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY
gene_symbol: PROC
disease_id: OMIM:612304
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: PROC
disease_id: OMIM:176860
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: AGGF1
disease_id: ORPHA:90308
disease_name: Klippel-Trénaunay syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:90308
disease_name: Klippel-Trénaunay syndrome
gene_symbol: GATA2
disease_id: ORPHA:228423
disease_name: GATA2 deficiency spectrum
GATA binding protein 2 deficiency spectrum
gene_symbol: EPB42
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SLC4A1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTB
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTA1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: ANK1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
Phenotype: Histiocytosis (HP:0100727)
Associated genes and diseases:
gene_symbol: IFNGR1
disease_id: OMIM:209950
disease_name: IMMUNODEFICIENCY 27A
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated genes and diseases:
gene_symbol: MEF2C
disease_id: ORPHA:228384
disease_name: 5q14.3 microdeletion syndrome
Del(5)(q14.3)
Monosomy 5q14.3
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: ALX4
disease_id: ORPHA:228390
disease_name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia type 2
Frontonasal dysplasia with alopecia and genital abnomality
gene_symbol: FKRP
disease_id: OMIM:613153
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: CEP290
disease_id: OMIM:611134
disease_name: MECKEL SYNDROME, TYPE 4
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
gene_symbol: KPNA3
disease_id: OMIM:620106
disease_name: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: PTF1A
disease_id: OMIM:609069
disease_name: PANCREATIC AND CEREBELLAR AGENESIS
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
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: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: B4GAT1
disease_id: OMIM:615287
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: PDE6D
disease_id: OMIM:615665
disease_name: JOUBERT SYNDROME 22
gene_symbol: KIF14
disease_id: OMIM:616258
disease_name: MECKEL SYNDROME 12
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: TCTN3
disease_id: OMIM:614815
disease_name: JOUBERT SYNDROME 18
Phenotype: Paroxysmal choreoathetosis (HP:0007098)
Associated genes and diseases:
gene_symbol: PRRT2
disease_id: OMIM:128200
disease_name: EPISODIC KINESIGENIC DYSKINESIA 1
gene_symbol: PRRT2
disease_id: OMIM:602066
disease_name: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
gene_symbol: PNKD
disease_id: OMIM:118800
disease_name: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Phenotype: Bronchogenic cyst (HP:0100730)
Associated genes and diseases:
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Transverse facial cleft (HP:0100731)
Associated genes and diseases:
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated genes and diseases:
gene_symbol: TMEM107
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN3
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CSPP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CEP290
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM216
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM231
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM67
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TXNDC15
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1L
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: MKS1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM237
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: DYNC2I1
disease_id: OMIM:615503
disease_name: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
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: NPHP3
disease_id: OMIM:208540
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
gene_symbol: PTRH2
disease_id: OMIM:616263
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
gene_symbol: SLC37A4
disease_id: OMIM:232220
disease_name: GLYCOGEN STORAGE DISEASE Ib
gene_symbol: NEK1
disease_id: OMIM:263520
disease_name: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
Phenotype: Neoplasm of the parathyroid gland (HP:0100733)
Associated genes and diseases:
gene_symbol: PRDM10
disease_id: ORPHA:122
disease_name: Birt-Hogg-Dubé syndrome
Hornstein-Knickenberg syndrome
gene_symbol: FLCN
disease_id: ORPHA:122
disease_name: Birt-Hogg-Dubé syndrome
Hornstein-Knickenberg syndrome
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: CDC73
disease_id: ORPHA:99880
disease_name: Hyperparathyroidism-jaw tumor syndrome
HPT-JT
gene_symbol: CDC73
disease_id: OMIM:145001
disease_name: HYPERPARATHYROIDISM 2 WITH JAW TUMORS
gene_symbol: CDC73
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: RET
disease_id: OMIM:171400
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
gene_symbol: MEN1
disease_id: OMIM:131100
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
gene_symbol: MEN1
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: CASR
disease_id: OMIM:145980
disease_name: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I
gene_symbol: IFNG
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: TSC1
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: TSC2
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: GCM2
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: CDKN1B
disease_id: OMIM:610755
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: IDH2
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
gene_symbol: IDH1
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
Phenotype: Abnormal vertebral epiphysis morphology (HP:0100734)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: ORPHA:90653
disease_name: Stickler syndrome type 1
Phenotype: Bulimia (HP:0100739)
Associated genes and diseases:
gene_symbol: PDSS1
disease_id: OMIM:614651
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 2
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
Phenotype: Lack of peer relationships (HP:0002332)
Associated genes and diseases:
gene_symbol: MECP2
disease_id: OMIM:300496
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
gene_symbol: NLGN4X
disease_id: OMIM:300495
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
gene_symbol: NLGN3
disease_id: OMIM:300425
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
gene_symbol: SLC2A1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SYNGAP1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: AP2M1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SCN1A
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: NEXMIF
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: CHD2
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SLC6A1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
Phenotype: Paroxysmal drowsiness (HP:0002330)
Associated genes and diseases:
gene_symbol: HCRT
disease_id: OMIM:161400
disease_name: NARCOLEPSY 1
Phenotype: Corneal arcus (HP:0001084)
Associated genes and diseases:
gene_symbol: KERA
disease_id: OMIM:217300
disease_name: CORNEA PLANA 2, AUTOSOMAL RECESSIVE
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: LCAT
disease_id: OMIM:245900
disease_name: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
gene_symbol: PCSK9
disease_id: OMIM:603776
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 3
gene_symbol: APOA1
disease_id: OMIM:618463
disease_name: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
gene_symbol: APOB
disease_id: OMIM:144010
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 2
gene_symbol: APOA2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: EPHX2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PPP1R17
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: LDLR
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: GHR
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: LIPC
disease_id: OMIM:614025
disease_name: HEPATIC LIPASE DEFICIENCY
gene_symbol: CHRDL1
disease_id: OMIM:309300
disease_name: MEGALOCORNEA
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: APOE
disease_id: ORPHA:412
disease_name: Dysbetalipoproteinemia
Broad-beta disease
Familial dyslipidemia type 3
HLP type 3
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Remnant hyperlipoproteinemia
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
Phenotype: Muscular edema (HP:0100748)
Associated genes and diseases:
gene_symbol: DYSF
disease_id: ORPHA:268
disease_name: Dysferlin-related limb-girdle muscular dystrophy R2
Autosomal recessive limb-girdle muscular dystrophy type 2B
Dysferlin-related LGMD R2
LGMD due to dysferlin deficiency
LGMD type 2B
LGMD2B
Limb-girdle muscular dystrophy due to dysferlin deficiency
Limb-girdle muscular dystrophy type 2B
Phenotype: Normal interictal EEG (HP:0002372)
Associated genes and diseases:
gene_symbol: SCN2A
disease_id: OMIM:607745
disease_name: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
gene_symbol: SCN2A
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: PDE2A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: SCN8A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: SCN8A
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: PRRT2
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: PRRT2
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: PRRT2
disease_id: OMIM:602066
disease_name: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
gene_symbol: KCNQ2
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: KCNQ3
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
Phenotype: Elevated urine hydroxyphenyllactic acid level (HP:6001004)
Associated genes and diseases:
gene_symbol: HPD
disease_id: OMIM:140350
disease_name: HAWKINSINURIA
Phenotype: Elevated urinary vanillactic acid level (HP:6001002)
Associated genes and diseases:
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
Phenotype: Increased urine 4-hydroxy-2-oxoglutarate level (HP:6001009)
Associated genes and diseases:
gene_symbol: HOGA1
disease_id: OMIM:613616
disease_name: HYPEROXALURIA, PRIMARY, TYPE III
Phenotype: Elevated urine glucose tetrasaccharide level (HP:6001008)
Associated genes and diseases:
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
Phenotype: Elevated urinary bile alcohol level (HP:6001007)
Associated genes and diseases:
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
Phenotype: Wet voice (HP:6001011)
Associated genes and diseases:
gene_symbol: PABPN1
disease_id: ORPHA:270
disease_name: Oculopharyngeal muscular dystrophy
OPMD
Phenotype: Inability to protrude lips (HP:6001010)
Associated genes and diseases:
gene_symbol: FRG1
disease_id: OMIM:158900
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
Phenotype: Abnormal liver lobulation (HP:0100752)
Associated genes and diseases:
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
Phenotype: Mania (HP:0100754)
Associated genes and diseases:
gene_symbol: ARMC5
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: KDM1A
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: GNAS
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: PRNP
disease_id: OMIM:603218
disease_name: HUNTINGTON DISEASE-LIKE 1
gene_symbol: SLC25A13
disease_id: ORPHA:247585
disease_name: Citrullinemia type II
Adult-onset citrin deficiency
Adult-onset citrullinemia type 2
Adult-onset citrullinemia type II
CTLN2
Citrullinemia type 2
Phenotype: Pancreatoblastoma (HP:0100757)
Associated genes and diseases:
gene_symbol: BRD4
disease_id: ORPHA:443167
disease_name: NUT midline carcinoma
NMC
gene_symbol: NUTM1
disease_id: ORPHA:443167
disease_name: NUT midline carcinoma
NMC