TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal protein O-linked glycosylation (HP:0012358)
Associated genes and diseases:
gene_symbol: COG4
disease_id: ORPHA:263501
disease_name: COG4-CDG
CDG syndrome type IIj
CDG-IIj
CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type IIj
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: DPM3
disease_id: ORPHA:263494
disease_name: DPM3-CDG
CDG syndrome type Io
CDG-Io
CDG1O
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type 1o
Congenital disorder of glycosylation type Io
gene_symbol: DPM2
disease_id: OMIM:615042
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
Phenotype: Granulovacuolar degeneration (HP:0002528)
Associated genes and diseases:
gene_symbol: MAPT
disease_id: OMIM:601104
disease_name: SUPRANUCLEAR PALSY, PROGRESSIVE, 1
Phenotype: Self-neglect (HP:0025479)
Associated genes and diseases:
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
Phenotype: Erythematous plaque (HP:0025474)
Associated genes and diseases:
gene_symbol: LDHA
disease_id: ORPHA:284426
disease_name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
gene_symbol: KRT10
disease_id: OMIM:607602
disease_name: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
gene_symbol: HAVCR2
disease_id: ORPHA:86884
disease_name: Subcutaneous panniculitis-like T-cell lymphoma
SPTCL
Subcutaneous panniculitic T-cell lymphoma
gene_symbol: CARD14
disease_id: OMIM:173200
disease_name: PITYRIASIS RUBRA PILARIS
gene_symbol: RASA1
disease_id: ORPHA:90307
disease_name: Parkes Weber syndrome
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: MPDU1
disease_id: ORPHA:79323
disease_name: MPDU1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: TRPM4
disease_id: OMIM:618531
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6
gene_symbol: AP1S3
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: IL36RN
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: COL7A1
disease_id: ORPHA:158673
disease_name: Localized dystrophic epidermolysis bullosa, acral form
Localized DEB, acral form
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: GNA14
disease_id: ORPHA:2122
disease_name: Kaposiform hemangioendothelioma
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
Phenotype: Hyperpigmented papule (HP:0025473)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: ORPHA:88630
disease_name: Terminal osseous dysplasia-pigmentary defects syndrome
gene_symbol: ENPP1
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ABCC6
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KIT
disease_id: ORPHA:79455
disease_name: Cutaneous mastocytoma
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
Phenotype: Atrial standstill (HP:0025478)
Associated genes and diseases:
gene_symbol: SCN5A
disease_id: OMIM:601154
disease_name: CARDIOMYOPATHY, DILATED, 1E
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: NPPA
disease_id: OMIM:615745
disease_name: ATRIAL STANDSTILL 2
gene_symbol: GJA5
disease_id: OMIM:108770
disease_name: ATRIAL STANDSTILL 1
gene_symbol: CASQ2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: TRDN
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: RYR2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Phenotype: Periarticular calcification (HP:0025477)
Associated genes and diseases:
gene_symbol: CCN6
disease_id: ORPHA:1159
disease_name: Progressive pseudorheumatoid dysplasia
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
gene_symbol: NT5E
disease_id: OMIM:211800
disease_name: CALCIFICATION OF JOINTS AND ARTERIES
gene_symbol: ENPP1
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ENPP1
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ABCC6
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
Phenotype: Testicular lipomatosis (HP:0025476)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: ORPHA:140944
disease_name: CLOVES syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
Phenotype: Erythematous macule (HP:0025475)
Associated genes and diseases:
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: CTLA4
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD28
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TNFRSF1B
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
Phenotype: Lipomyelomeningocele (HP:0025480)
Associated genes and diseases:
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
Phenotype: Cervical hemivertebrae (HP:0025481)
Associated genes and diseases:
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
Phenotype: Positive perchlorate discharge test (HP:0025482)
Associated genes and diseases:
gene_symbol: DUOXA2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SLC5A5
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TG
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TPO
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: IYD
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: DUOX2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
Phenotype: Abnormal posturing (HP:0002533)
Associated genes and diseases:
gene_symbol: TIMM8A
disease_id: OMIM:304700
disease_name: MOHR-TRANEBJAERG SYNDROME
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: AOPEP
disease_id: OMIM:619565
disease_name: DYSTONIA 31
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: PRNP
disease_id: ORPHA:157941
disease_name: Huntington disease-like 1
Early-onset prion disease with prominent psychiatric features
HDL1
gene_symbol: TOR1A
disease_id: OMIM:128100
disease_name: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
gene_symbol: PANK2
disease_id: ORPHA:216866
disease_name: Classic pantothenate kinase-associated neurodegeneration
NBIA1, classic form
Neurodegeneration with brain iron accumulation type 1, classic form
PKAN, classic form
Phenotype: Axial dystonia (HP:0002530)
Associated genes and diseases:
gene_symbol: PPP2R2B
disease_id: OMIM:604326
disease_name: SPINOCEREBELLAR ATAXIA 12
gene_symbol: CIZ1
disease_id: ORPHA:420492
disease_name: Adult-onset cervical dystonia, DYT23 type
DYT23
Dystonia 23
gene_symbol: FUS
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPG11
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SIGMAR1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPTLC1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: ALS2
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: MAPT
disease_id: OMIM:601104
disease_name: SUPRANUCLEAR PALSY, PROGRESSIVE, 1
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: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: EIF2AK2
disease_id: OMIM:619687
disease_name: DYSTONIA 33
gene_symbol: MECR
disease_id: ORPHA:508093
disease_name: MEPAN syndrome
Autosomal recessive childhood-onset dystonia, DYT29 type
Childhood-onset generalized dystonia-optic atrophy syndrome
DYT29
Dystonia 29
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
gene_symbol: NDUFS3
disease_id: OMIM:618230
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: GNAL
disease_id: ORPHA:329466
disease_name: Autosomal dominant focal dystonia, DYT25 type
DYT25
Dystonia 25
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: COQ2
disease_id: ORPHA:98933
disease_name: Multiple system atrophy, parkinsonian type
MSA, parkinsonian type
MSA-p
gene_symbol: COL6A3
disease_id: ORPHA:464440
disease_name: Primary dystonia, DYT27 type
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated genes and diseases:
gene_symbol: TSHR
disease_id: OMIM:609152
disease_name: HYPERTHYROIDISM, NONAUTOIMMUNE
gene_symbol: TSHR
disease_id: ORPHA:90673
disease_name: Hypothyroidism due to TSH receptor mutations
gene_symbol: THRB
disease_id: ORPHA:566243
disease_name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
RTHb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in TRb
gene_symbol: THRB
disease_id: OMIM:188570
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
gene_symbol: DUOX2
disease_id: ORPHA:226316
disease_name: Genetic transient congenital hypothyroidism
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: PAX8
disease_id: OMIM:218700
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
gene_symbol: KCNJ10
disease_id: OMIM:274600
disease_name: PENDRED SYNDROME
gene_symbol: FOXI1
disease_id: OMIM:274600
disease_name: PENDRED SYNDROME
gene_symbol: SLC26A4
disease_id: OMIM:274600
disease_name: PENDRED SYNDROME
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated genes and diseases:
gene_symbol: PROP1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX4
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX3
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: HESX1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: DUOXA2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SLC5A5
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TG
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TPO
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: IYD
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: DUOX2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: NKX2-1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: PAX8
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: NKX2-5
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: FOXE1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: TSHR
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: SLC26A4
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: TRHR
disease_id: ORPHA:99832
disease_name: Resistance to thyrotropin-releasing hormone syndrome
Central hypothyroidism due to TRH receptor deficiency
TRH resistance syndrome
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: THRB
disease_id: ORPHA:566243
disease_name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
RTHb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in TRb
gene_symbol: THRB
disease_id: OMIM:188570
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: KCNJ10
disease_id: OMIM:274600
disease_name: PENDRED SYNDROME
gene_symbol: FOXI1
disease_id: OMIM:274600
disease_name: PENDRED SYNDROME
Phenotype: Detrusor sphincter dyssynergia (HP:0025488)
Associated genes and diseases:
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
Phenotype: Fused labia majora (HP:0025486)
Associated genes and diseases:
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: NR5A1
disease_id: OMIM:617480
disease_name: 46,XX SEX REVERSAL 4
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
Phenotype: Microcoria (HP:0025492)
Associated genes and diseases:
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: RBP4
disease_id: OMIM:616428
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
gene_symbol: LAMB2
disease_id: ORPHA:2670
disease_name: Pierson syndrome
Microcoria-congenital nephrosis syndrome
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
Phenotype: Sclerosis of distal finger phalanx (HP:0100915)
Associated genes and diseases:
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
Phenotype: Deficit in phonologic short-term memory (HP:0002549)
Associated genes and diseases:
gene_symbol: RRM2B
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: RNASEH1
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: PRNP
disease_id: ORPHA:280397
disease_name: Familial Alzheimer-like prion disease
gene_symbol: MAPT
disease_id: ORPHA:240112
disease_name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome
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
Phenotype: Incomprehensible speech (HP:0002546)
Associated genes and diseases:
gene_symbol: SRPX2
disease_id: ORPHA:163721
disease_name: Rolandic epilepsy-speech dyspraxia syndrome
gene_symbol: GRIN2A
disease_id: ORPHA:163721
disease_name: Rolandic epilepsy-speech dyspraxia syndrome
gene_symbol: SATB2
disease_id: ORPHA:251019
disease_name: 2q32q33 microdeletion syndrome
Del(2)(q32)
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32q33
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: FOXP2
disease_id: ORPHA:209908
disease_name: Isolated childhood apraxia of speech
Isolated CAS
Isolated developmental verbal dyspraxia
Pure CAS
Pure childhood apraxia of speech
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1
gene_symbol: FOXP2
disease_id: OMIM:602081
disease_name: SPEECH-LANGUAGE DISORDER 1
gene_symbol: CC2D1A
disease_id: OMIM:608443
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
gene_symbol: FXN
disease_id: ORPHA:95
disease_name: Friedreich ataxia
FA
FRDA
Phenotype: Retrocollis (HP:0002544)
Associated genes and diseases:
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: PRKRA
disease_id: OMIM:612067
disease_name: DYSTONIA 16
gene_symbol: FUS
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPG11
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SIGMAR1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPTLC1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: TSPOAP1
disease_id: OMIM:620456
disease_name: DYSTONIA 22, ADULT-ONSET
gene_symbol: MAPT
disease_id: OMIM:601104
disease_name: SUPRANUCLEAR PALSY, PROGRESSIVE, 1
gene_symbol: KMT2B
disease_id: OMIM:617284
disease_name: DYSTONIA 28, CHILDHOOD-ONSET
Phenotype: Patchy demyelination of subcortical white matter (HP:0002545)
Associated genes and diseases:
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC6
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: ERCC8
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
Phenotype: Abnormal coronary artery physiology (HP:0025496)
Associated genes and diseases:
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
Phenotype: Palmoplantar erythema (HP:0025493)
Associated genes and diseases:
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: DSP
disease_id: OMIM:605676
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: GJA1
disease_id: OMIM:104100
disease_name: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
Phenotype: Aceruloplasminemia (HP:0025498)
Associated genes and diseases:
gene_symbol: CP
disease_id: OMIM:604290
disease_name: ACERULOPLASMINEMIA
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency