TaoMedAI/RareMedData huggingface dataset:
Phenotype: Head-banging (HP:0012168)
Associated genes and diseases:
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: SVBP
disease_id: OMIM:618569
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: PIGF
disease_id: OMIM:619356
disease_name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
Phenotype: Self-biting (HP:0012169)
Associated genes and diseases:
gene_symbol: PIDD1
disease_id: OMIM:619827
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY
gene_symbol: DNM1L
disease_id: OMIM:614388
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
gene_symbol: ATP1A1
disease_id: OMIM:618314
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2
gene_symbol: CEP104
disease_id: OMIM:619988
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: SYT1
disease_id: ORPHA:522077
disease_name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
Phenotype: Asterixis (HP:0012164)
Associated genes and diseases:
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
gene_symbol: ATP8B1
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: ABCB11
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: ABCB4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: NR1H4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
Phenotype: Hydranencephaly (HP:0002324)
Associated genes and diseases:
gene_symbol: WDR81
disease_id: OMIM:617967
disease_name: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES
gene_symbol: GPKOW
disease_id: ORPHA:2570
disease_name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Morse-Rawnsley-Sargent syndrome
gene_symbol: SNRPB
disease_id: ORPHA:1393
disease_name: Cerebrocostomandibular syndrome
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: NDE1
disease_id: OMIM:605013
disease_name: MICROHYDRANENCEPHALY
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
gene_symbol: FLVCR2
disease_id: OMIM:225790
disease_name: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
Phenotype: Knee clonus (HP:0011449)
Associated genes and diseases:
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: KIF5A
disease_id: OMIM:604187
disease_name: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT
gene_symbol: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: MTRFR
disease_id: OMIM:615035
disease_name: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: RTN2
disease_id: OMIM:604805
disease_name: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
Phenotype: Aggravated by (HP:0025285)
Associated genes and diseases:
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
Phenotype: Stereotypical body rocking (HP:0012172)
Associated genes and diseases:
gene_symbol: ZSWIM6
disease_id: OMIM:617865
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
gene_symbol: AFF2
disease_id: ORPHA:100973
disease_name: FRAXE intellectual disability
Intellectual disability associated with fragile site FRAXE
gene_symbol: AFF2
disease_id: OMIM:309548
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated genes and diseases:
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: HMOX1
disease_id: OMIM:614034
disease_name: HEME OXYGENASE 1 DEFICIENCY
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: RASGRP1
disease_id: OMIM:618534
disease_name: IMMUNODEFICIENCY 64
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: PLCG1
disease_id: OMIM:620514
disease_name: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION
gene_symbol: RAC2
disease_id: OMIM:618987
disease_name: IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
Phenotype: Orthostatic tachycardia (HP:0012173)
Associated genes and diseases:
gene_symbol: SLC6A2
disease_id: OMIM:604715
disease_name: ORTHOSTATIC INTOLERANCE
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated genes and diseases:
gene_symbol: SEMA4A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: ATM
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: NPAT
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLE
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BRCA2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BRCA2
disease_id: OMIM:613029
disease_name: GLIOMA SUSCEPTIBILITY 3
gene_symbol: BMPR1A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: RPS20
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: MUTYH
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLD1
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: CHEK2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MLH1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MLH1
disease_id: OMIM:276300
disease_name: MISMATCH REPAIR CANCER SYNDROME 1
gene_symbol: PMS2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS2
disease_id: OMIM:619101
disease_name: MISMATCH REPAIR CANCER SYNDROME 4
gene_symbol: TGFBR2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: OMIM:619097
disease_name: MISMATCH REPAIR CANCER SYNDROME 3
gene_symbol: PMS1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: OMIM:619096
disease_name: MISMATCH REPAIR CANCER SYNDROME 2
gene_symbol: ERBB2
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: TP53
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: IDH1
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated genes and diseases:
gene_symbol: PIK3CD
disease_id: OMIM:619281
disease_name: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: PRF1
disease_id: OMIM:603553
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: OMIM:608898
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: OMIM:613101
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
gene_symbol: NLRC4
disease_id: OMIM:616050
disease_name: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: IL2RG
disease_id: OMIM:300400
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: WIPF1
disease_id: OMIM:614493
disease_name: WISKOTT-ALDRICH SYNDROME 2
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: FCGR3A
disease_id: OMIM:615707
disease_name: IMMUNODEFICIENCY 20
gene_symbol: IKBKG
disease_id: OMIM:300291
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
Phenotype: Resistance to activated protein C (HP:0012175)
Associated genes and diseases:
gene_symbol: F5
disease_id: OMIM:188055
disease_name: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
Phenotype: Nail-biting (HP:0012170)
Associated genes and diseases:
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: PIDD1
disease_id: OMIM:619827
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
Phenotype: Tongue thrusting (HP:0100703)
Associated genes and diseases:
gene_symbol: UBE3A
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: UBE3A
disease_id: ORPHA:98795
disease_name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
UPD(15)pat
gene_symbol: UBE3A
disease_id: ORPHA:411511
disease_name: Angelman syndrome due to a point mutation
gene_symbol: OCA2
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
gene_symbol: CDKL5
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: NTNG1
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: MECP2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: SMC1A
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: ZSWIM6
disease_id: OMIM:617865
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
gene_symbol: DYRK1A
disease_id: OMIM:614104
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
gene_symbol: FOXG1
disease_id: OMIM:613454
disease_name: RETT SYNDROME, CONGENITAL VARIANT
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
Phenotype: Abnormal oligodendroglia morphology (HP:0100706)
Associated genes and diseases:
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
Phenotype: Reduction of oligodendroglia (HP:0100709)
Associated genes and diseases:
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
Phenotype: Hyperplastic colonic polyposis (HP:0012183)
Associated genes and diseases:
gene_symbol: BMPR1A
disease_id: OMIM:610069
disease_name: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2
gene_symbol: BMPR1A
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: GREM1
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
Phenotype: Increased HDL cholesterol concentration (HP:0012184)
Associated genes and diseases:
gene_symbol: LIPC
disease_id: OMIM:614025
disease_name: HEPATIC LIPASE DEFICIENCY
gene_symbol: LIPC
disease_id: ORPHA:140905
disease_name: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Hyperlipidemia due to HL deficiency
Hyperlipidemia due to HTGL deficiency
Hyperlipidemia due to hepatic lipase deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
gene_symbol: APOC3
disease_id: OMIM:614028
disease_name: APOLIPOPROTEIN C-III DEFICIENCY
gene_symbol: CETP
disease_id: OMIM:143470
disease_name: HYPERALPHALIPOPROTEINEMIA 1
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated genes and diseases:
gene_symbol: TTR
disease_id: OMIM:115430
disease_name: CARPAL TUNNEL SYNDROME
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: TTR
disease_id: ORPHA:85447
disease_name: ATTRV30M amyloidosis
ATTRV30M-related amyloidosis
Hereditary ATTRV30M-related amyloidosis
gene_symbol: TTR
disease_id: ORPHA:85451
disease_name: ATTRV122I amyloidosis
ATTRV122I-related amyloidosis
gene_symbol: CCND1
disease_id: ORPHA:29073
disease_name: Multiple myeloma
Kahler disease
Medullary plasmacytoma
Myelomatosis
Plasma cell myeloma
gene_symbol: SH3TC2
disease_id: OMIM:613353
disease_name: MONONEUROPATHY OF THE MEDIAN NERVE, MILD
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: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: GNPTAB
disease_id: ORPHA:423461
disease_name: Mucolipidosis type III alpha/beta
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: COMP
disease_id: OMIM:619161
disease_name: CARPAL TUNNEL SYNDROME 2
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
gene_symbol: FBN1
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: IDUA
disease_id: OMIM:607016
disease_name: SCHEIE SYNDROME
gene_symbol: B2M
disease_id: ORPHA:314652
disease_name: Variant ABeta2M amyloidosis
Autosomal dominant beta2-microglobulinic amyloidosis
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated genes and diseases:
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: ABCB7
disease_id: ORPHA:2802
disease_name: X-linked sideroblastic anemia and spinocerebellar ataxia
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: CLPX
disease_id: OMIM:618015
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, 2
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: ALAS2
disease_id: OMIM:300752
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED
gene_symbol: PPOX
disease_id: OMIM:620483
disease_name: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
Phenotype: Hyperemesis gravidarum (HP:0012188)
Associated genes and diseases:
gene_symbol: TSHR
disease_id: ORPHA:99819
disease_name: Familial gestational hyperthyroidism
gene_symbol: TSHR
disease_id: OMIM:603373
disease_name: HYPERTHYROIDISM, FAMILIAL GESTATIONAL
gene_symbol: GDF15
disease_id: OMIM:620730
disease_name: HYPEREMESIS GRAVIDARUM, SUSCEPTIBILITY TO