TaoMedAI/RareMedData huggingface dataset:
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated genes and diseases:
gene_symbol: SPTLC1
disease_id: OMIM:162400
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
gene_symbol: COG8
disease_id: ORPHA:95428
disease_name: COG8-CDG
CDG syndrome type IIh
CDG-IIh
CDG2H
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: GDAP1
disease_id: ORPHA:99948
disease_name: Charcot-Marie-Tooth disease type 4A
CMT4A
gene_symbol: GDAP1
disease_id: ORPHA:101097
disease_name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
gene_symbol: SETX
disease_id: OMIM:606002
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
gene_symbol: HSPB1
disease_id: OMIM:606595
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
gene_symbol: SYNE1
disease_id: ORPHA:88644
disease_name: Autosomal recessive ataxia, Beauce type
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
Phenotype: Axonal loss (HP:0003447)
Associated genes and diseases:
gene_symbol: ADPRS
disease_id: OMIM:618170
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
gene_symbol: NDRG1
disease_id: OMIM:601455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
gene_symbol: PMP22
disease_id: OMIM:118300
disease_name: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
gene_symbol: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: TREM2
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: SURF1
disease_id: OMIM:616684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K
gene_symbol: UBQLN2
disease_id: OMIM:300857
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: UBTF
disease_id: OMIM:617672
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
gene_symbol: INF2
disease_id: OMIM:614455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: ASCC1
disease_id: OMIM:616867
disease_name: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
gene_symbol: GJB1
disease_id: ORPHA:1175
disease_name: X-linked progressive cerebellar ataxia
gene_symbol: TRIP4
disease_id: OMIM:616866
disease_name: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
gene_symbol: FIG4
disease_id: OMIM:611228
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
gene_symbol: BAG3
disease_id: OMIM:612954
disease_name: MYOPATHY, MYOFIBRILLAR, 6
gene_symbol: LMNA
disease_id: ORPHA:98856
disease_name: Charcot-Marie-Tooth disease type 2B1
AR-CMT2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive axonal CMT4C1
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: GDAP1
disease_id: ORPHA:101097
disease_name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
gene_symbol: SLC12A6
disease_id: OMIM:620068
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
Phenotype: Microglossia (HP:0000171)
Associated genes and diseases:
gene_symbol: ECM1
disease_id: ORPHA:530
disease_name: Lipoid proteinosis
Hyalinosis cutis et mucosae
Urbach-Wiethe disease
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: PRRX1
disease_id: ORPHA:990
disease_name: Agnathia-holoprosencephaly-situs inversus syndrome
gene_symbol: PRRX1
disease_id: OMIM:202650
disease_name: AGNATHIA-OTOCEPHALY COMPLEX
gene_symbol: OTX2
disease_id: ORPHA:990
disease_name: Agnathia-holoprosencephaly-situs inversus syndrome
gene_symbol: LMNB2
disease_id: OMIM:616540
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 9
gene_symbol: NEK1
disease_id: OMIM:263520
disease_name: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: SMO
disease_id: OMIM:241800
disease_name: PALLISTER-HALL-LIKE SYNDROME
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: RBBP8
disease_id: OMIM:606744
disease_name: SECKEL SYNDROME 2
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
Phenotype: Cold-induced muscle cramps (HP:0003449)
Associated genes and diseases:
gene_symbol: GARS1
disease_id: OMIM:600794
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA
gene_symbol: GARS1
disease_id: ORPHA:139536
disease_name: Distal hereditary motor neuropathy type 5
Distal HMN V
Distal hereditary motor neuropathy type V
Distal spinal muscular atrophy type 5
dHMN5
gene_symbol: GARS1
disease_id: OMIM:601472
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
gene_symbol: BSCL2
disease_id: ORPHA:139536
disease_name: Distal hereditary motor neuropathy type 5
Distal HMN V
Distal hereditary motor neuropathy type V
Distal spinal muscular atrophy type 5
dHMN5
gene_symbol: REEP1
disease_id: ORPHA:139536
disease_name: Distal hereditary motor neuropathy type 5
Distal HMN V
Distal hereditary motor neuropathy type V
Distal spinal muscular atrophy type 5
dHMN5
gene_symbol: PMP22
disease_id: OMIM:118220
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A
gene_symbol: CHCHD10
disease_id: ORPHA:276435
disease_name: Lower motor neuron syndrome with late-adult onset
LOSMoN
Late-onset spinal motor neuronopathy
SMAJ
Spinal muscular atrophy, Jokela type
gene_symbol: CPT2
disease_id: ORPHA:228302
disease_name: Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
gene_symbol: CPT2
disease_id: ORPHA:228305
disease_name: Carnitine palmitoyl transferase II deficiency, severe infantile form
CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
gene_symbol: MPZ
disease_id: OMIM:118200
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B
Phenotype: Benign gastrointestinal tract tumors (HP:0006719)
Associated genes and diseases:
gene_symbol: MLH1
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MSH2
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
Phenotype: Small intestine carcinoid (HP:0006722)
Associated genes and diseases:
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
Phenotype: Intestinal carcinoid (HP:0006723)
Associated genes and diseases:
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer 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: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
Phenotype: T-cell acute lymphoblastic leukemias (HP:0006727)
Associated genes and diseases:
gene_symbol: BRCA2
disease_id: OMIM:605724
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
gene_symbol: BRCA2
disease_id: OMIM:613029
disease_name: GLIOMA SUSCEPTIBILITY 3
gene_symbol: MSH2
disease_id: OMIM:619096
disease_name: MISMATCH REPAIR CANCER SYNDROME 2
gene_symbol: DUT
disease_id: OMIM:620044
disease_name: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME
Phenotype: Axonal regeneration (HP:0003450)
Associated genes and diseases:
gene_symbol: GDAP1
disease_id: OMIM:607831
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
gene_symbol: JPH1
disease_id: OMIM:607831
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
gene_symbol: GNB4
disease_id: OMIM:615185
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
gene_symbol: YARS1
disease_id: OMIM:608323
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
gene_symbol: HK1
disease_id: OMIM:605285
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE
gene_symbol: NEFL
disease_id: OMIM:607734
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
gene_symbol: LMNA
disease_id: ORPHA:98856
disease_name: Charcot-Marie-Tooth disease type 2B1
AR-CMT2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive axonal CMT4C1
Phenotype: Increased rate of premature chromosome condensation (HP:0003451)
Associated genes and diseases:
gene_symbol: MCPH1
disease_id: OMIM:251200
disease_name: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
Phenotype: Increased circulating iron concentration (HP:0003452)
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
gene_symbol: BCS1L
disease_id: OMIM:603358
disease_name: GRACILE SYNDROME
gene_symbol: STEAP3
disease_id: ORPHA:300298
disease_name: Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital hypochromic sideroblastic anemia
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: SLC11A2
disease_id: OMIM:206100
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
gene_symbol: HAMP
disease_id: OMIM:613313
disease_name: HEMOCHROMATOSIS, TYPE 2B
gene_symbol: HJV
disease_id: OMIM:602390
disease_name: HEMOCHROMATOSIS, TYPE 2A
gene_symbol: FTH1
disease_id: OMIM:615517
disease_name: HEMOCHROMATOSIS, TYPE 5
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: TFR2
disease_id: OMIM:604250
disease_name: HEMOCHROMATOSIS, TYPE 3
gene_symbol: BMP2
disease_id: OMIM:235200
disease_name: HEMOCHROMATOSIS, TYPE 1
gene_symbol: HFE
disease_id: OMIM:235200
disease_name: HEMOCHROMATOSIS, TYPE 1
gene_symbol: PKLR
disease_id: ORPHA:766
disease_name: Hemolytic anemia due to red cell pyruvate kinase deficiency
Pyruvate kinase deficiency of erythrocytes
Phenotype: Platelet antibody positive (HP:0003454)
Associated genes and diseases:
gene_symbol: CASP10
disease_id: OMIM:603909
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
gene_symbol: FASLG
disease_id: OMIM:601859
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
gene_symbol: FAS
disease_id: OMIM:601859
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Phenotype: Elevated circulating long chain fatty acid concentration (HP:0003455)
Associated genes and diseases:
gene_symbol: PEX5
disease_id: OMIM:202370
disease_name: PEROXISOME BIOGENESIS DISORDER 2B
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: CPT2
disease_id: ORPHA:228302
disease_name: Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
gene_symbol: ABCD1
disease_id: OMIM:300100
disease_name: ADRENOLEUKODYSTROPHY
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: GNAS
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: GNAS
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
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-AS1
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: STX16
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
Phenotype: Movement abnormality of the tongue (HP:0000182)
Associated genes and diseases:
gene_symbol: POLG
disease_id: ORPHA:254881
disease_name: Spinocerebellar ataxia with epilepsy
MSCAE
Mitochondrial spinocerebellar ataxia with epilepsy
SCAE
gene_symbol: MTPAP
disease_id: ORPHA:254343
disease_name: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic ataxia type 4
SPAX4
gene_symbol: TUBB4A
disease_id: ORPHA:98805
disease_name: Primary dystonia, DYT4 type
DYT4
Hereditary whispering dysphonia
gene_symbol: PABPN1
disease_id: ORPHA:270
disease_name: Oculopharyngeal muscular dystrophy
OPMD
gene_symbol: GAA
disease_id: ORPHA:308552
disease_name: Glycogen storage disease due to acid maltase deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
gene_symbol: ATP13A2
disease_id: ORPHA:306674
disease_name: Kufor-Rakeb syndrome
PARK9
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: SBF2
disease_id: ORPHA:99956
disease_name: Charcot-Marie-Tooth disease type 4B2
CMT4B2
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: RILPL1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: GIPC1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: LRP12
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NUTM2B-AS1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
Phenotype: Tongue muscle weakness (HP:0000183)
Associated genes and diseases:
gene_symbol: PABPN1
disease_id: ORPHA:270
disease_name: Oculopharyngeal muscular dystrophy
OPMD
gene_symbol: GAA
disease_id: ORPHA:308552
disease_name: Glycogen storage disease due to acid maltase deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
gene_symbol: ATP13A2
disease_id: ORPHA:306674
disease_name: Kufor-Rakeb syndrome
PARK9
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: SBF2
disease_id: ORPHA:99956
disease_name: Charcot-Marie-Tooth disease type 4B2
CMT4B2
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: RILPL1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: GIPC1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: LRP12
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NUTM2B-AS1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated genes and diseases:
gene_symbol: ZC4H2
disease_id: OMIM:301041
disease_name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: ATRX
disease_id: ORPHA:847
disease_name: X-linked alpha-thalassemia-intellectual disability syndrome
ATR-X syndrome
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: CDK19
disease_id: OMIM:618916
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS