TaoMedAI/RareMedData huggingface dataset:
Phenotype: Aplasia of the phalanges of the hallux (HP:0010110)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Phenotype: Short phalanx of hallux (HP:0010111)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
Phenotype: Mesoaxial foot polydactyly (HP:0010112)
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: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: RAB34
disease_id: OMIM:620718
disease_name: OROFACIODIGITAL SYNDROME XX
Phenotype: Shortened sleep phase (HP:0033063)
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: OCA2
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: ADRB1
disease_id: OMIM:618591
disease_name: SHORT SLEEP, FAMILIAL NATURAL, 2
Phenotype: Steroid-responsive anemia (HP:0033074)
Associated genes and diseases:
gene_symbol: EPO
disease_id: OMIM:617911
disease_name: DIAMOND-BLACKFAN ANEMIA-LIKE
gene_symbol: RPL18
disease_id: OMIM:618310
disease_name: DIAMOND-BLACKFAN ANEMIA 18
gene_symbol: RPS26
disease_id: OMIM:613309
disease_name: DIAMOND-BLACKFAN ANEMIA 10
gene_symbol: RPL35
disease_id: OMIM:618312
disease_name: DIAMOND-BLACKFAN ANEMIA 19
Phenotype: Inappropriately normal thyroid-stimulating hormone level (HP:0033075)
Associated genes and diseases:
gene_symbol: IRS4
disease_id: OMIM:301035
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9
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: TBL1X
disease_id: OMIM:301033
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8
gene_symbol: IGSF1
disease_id: OMIM:300888
disease_name: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
Phenotype: Abnormal circulating free T4 concentration (HP:0033076)
Associated genes and diseases:
gene_symbol: ALB
disease_id: OMIM:615999
disease_name: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC
gene_symbol: TRU-TCA1-1
disease_id: OMIM:620198
disease_name: THYROID HORMONE METABOLISM, ABNORMAL, 3
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:274300
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
gene_symbol: THRB
disease_id: OMIM:188570
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
gene_symbol: KCNJ18
disease_id: OMIM:613239
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
gene_symbol: SECISBP2
disease_id: OMIM:609698
disease_name: THYROID HORMONE METABOLISM, ABNORMAL
gene_symbol: IRS4
disease_id: OMIM:301035
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9
gene_symbol: NKX2-5
disease_id: OMIM:225250
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
gene_symbol: CPE
disease_id: OMIM:619326
disease_name: BDV SYNDROME
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: TBL1X
disease_id: OMIM:301033
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
Phenotype: Increased circulating free T4 concentration (HP:0033077)
Associated genes and diseases:
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:274300
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
gene_symbol: THRB
disease_id: OMIM:188570
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
gene_symbol: ALB
disease_id: OMIM:615999
disease_name: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC
gene_symbol: KCNJ18
disease_id: OMIM:613239
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
gene_symbol: SECISBP2
disease_id: OMIM:609698
disease_name: THYROID HORMONE METABOLISM, ABNORMAL
gene_symbol: TRU-TCA1-1
disease_id: OMIM:620198
disease_name: THYROID HORMONE METABOLISM, ABNORMAL, 3
Phenotype: Decreased circulating free T4 concentration (HP:0033078)
Associated genes and diseases:
gene_symbol: IRS4
disease_id: OMIM:301035
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9
gene_symbol: NKX2-5
disease_id: OMIM:225250
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
gene_symbol: CPE
disease_id: OMIM:619326
disease_name: BDV SYNDROME
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: TBL1X
disease_id: OMIM:301033
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
Phenotype: Abnormal TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033080)
Associated genes and diseases:
gene_symbol: CPE
disease_id: OMIM:619326
disease_name: BDV SYNDROME
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: IGSF1
disease_id: OMIM:300888
disease_name: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
gene_symbol: TRHR
disease_id: OMIM:618573
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7
Phenotype: Reduced TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033082)
Associated genes and diseases:
gene_symbol: CPE
disease_id: OMIM:619326
disease_name: BDV SYNDROME
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: IGSF1
disease_id: OMIM:300888
disease_name: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
gene_symbol: TRHR
disease_id: OMIM:618573
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7
Phenotype: Increased circulating farnesol concentration (HP:0033083)
Associated genes and diseases:
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
Phenotype: Abnormal antral follicle count (HP:0033084)
Associated genes and diseases:
gene_symbol: BNC1
disease_id: OMIM:618723
disease_name: PREMATURE OVARIAN FAILURE 16
gene_symbol: MEIOB
disease_id: OMIM:620686
disease_name: PREMATURE OVARIAN FAILURE 23
gene_symbol: SYCP2L
disease_id: OMIM:620840
disease_name: PREMATURE OVARIAN FAILURE 24
gene_symbol: NOBOX
disease_id: OMIM:611548
disease_name: PREMATURE OVARIAN FAILURE 5
Phenotype: Reduced antral follicle count (HP:0033085)
Associated genes and diseases:
gene_symbol: BNC1
disease_id: OMIM:618723
disease_name: PREMATURE OVARIAN FAILURE 16
gene_symbol: MEIOB
disease_id: OMIM:620686
disease_name: PREMATURE OVARIAN FAILURE 23
gene_symbol: SYCP2L
disease_id: OMIM:620840
disease_name: PREMATURE OVARIAN FAILURE 24
gene_symbol: NOBOX
disease_id: OMIM:611548
disease_name: PREMATURE OVARIAN FAILURE 5
Phenotype: Quotidian fever (HP:0033087)
Associated genes and diseases:
gene_symbol: LACC1
disease_id: OMIM:618795
disease_name: JUVENILE ARTHRITIS
Phenotype: Conjunctival dermolipoma (HP:0500070)
Associated genes and diseases:
gene_symbol: PITX2
disease_id: OMIM:180550
disease_name: RING DERMOID OF CORNEA
Phenotype: Increased aromatic amino acid level in urine (HP:0033090)
Associated genes and diseases:
gene_symbol: TDO2
disease_id: ORPHA:2224
disease_name: Hypertryptophanemia
gene_symbol: TDO2
disease_id: OMIM:600627
disease_name: HYPERTRYPTOPHANEMIA
gene_symbol: TAT
disease_id: OMIM:276600
disease_name: TYROSINEMIA, TYPE II
Phenotype: Increased urine succinate level (HP:0033092)
Associated genes and diseases:
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: SCO1
disease_id: OMIM:619048
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: SLC25A1
disease_id: OMIM:615182
disease_name: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
gene_symbol: SLC13A3
disease_id: OMIM:618384
disease_name: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
Phenotype: Increased sulfur amino acid level in urine (HP:0033095)
Associated genes and diseases:
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: MTRR
disease_id: OMIM:236270
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
gene_symbol: MTHFR
disease_id: OMIM:236250
disease_name: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
gene_symbol: MTHFR
disease_id: ORPHA:395
disease_name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
gene_symbol: LMBRD1
disease_id: OMIM:277380
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
gene_symbol: HCFC1
disease_id: OMIM:309541
disease_name: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
gene_symbol: MMADHC
disease_id: OMIM:277410
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
gene_symbol: PREPL
disease_id: OMIM:616224
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 22
gene_symbol: PREPL
disease_id: ORPHA:163690
disease_name: Hypotonia-cystinuria syndrome
HCS
gene_symbol: PREPL
disease_id: ORPHA:163693
disease_name: 2p21 microdeletion syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
gene_symbol: SLC3A1
disease_id: OMIM:220100
disease_name: CYSTINURIA
gene_symbol: SLC3A1
disease_id: ORPHA:163690
disease_name: Hypotonia-cystinuria syndrome
HCS
gene_symbol: SLC3A1
disease_id: ORPHA:163693
disease_name: 2p21 microdeletion syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
gene_symbol: SLC7A9
disease_id: OMIM:220100
disease_name: CYSTINURIA
gene_symbol: PPM1B
disease_id: ORPHA:163693
disease_name: 2p21 microdeletion syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
gene_symbol: CAMKMT
disease_id: ORPHA:163693
disease_name: 2p21 microdeletion syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
Phenotype: Increased aspartate family amino acid level in urine (HP:0033096)
Associated genes and diseases:
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: SLC3A1
disease_id: OMIM:220100
disease_name: CYSTINURIA
gene_symbol: SLC7A9
disease_id: OMIM:220100
disease_name: CYSTINURIA
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
gene_symbol: SLC1A1
disease_id: OMIM:222730
disease_name: DICARBOXYLIC AMINOACIDURIA
Phenotype: Increased urine proteinogenic amino acid derivative level (HP:0033097)
Associated genes and diseases:
gene_symbol: GPHN
disease_id: OMIM:615501
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: SLC25A13
disease_id: OMIM:603471
disease_name: CITRULLINEMIA, TYPE II, ADULT-ONSET
gene_symbol: PHYKPL
disease_id: OMIM:615011
disease_name: PHOSPHOHYDROXYLYSINURIA
gene_symbol: OPLAH
disease_id: OMIM:260005
disease_name: 5-OXOPROLINASE DEFICIENCY
gene_symbol: GSS
disease_id: OMIM:266130
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY
gene_symbol: GSS
disease_id: OMIM:231900
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
gene_symbol: IVD
disease_id: OMIM:243500
disease_name: ISOVALERIC ACIDEMIA
gene_symbol: ACAT1
disease_id: OMIM:203750
disease_name: ALPHA-METHYLACETOACETIC ACIDURIA
gene_symbol: HAL
disease_id: OMIM:235800
disease_name: HISTIDINEMIA
Phenotype: Increased serine family amino acid in urine (HP:0033099)
Associated genes and diseases:
gene_symbol: GLDC
disease_id: OMIM:605899
disease_name: GLYCINE ENCEPHALOPATHY
gene_symbol: IVD
disease_id: OMIM:243500
disease_name: ISOVALERIC ACIDEMIA
gene_symbol: SLC36A2
disease_id: OMIM:242600
disease_name: IMINOGLYCINURIA
gene_symbol: SLC36A2
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC36A2
disease_id: OMIM:138500
disease_name: HYPERGLYCINURIA
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: SLC6A18
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC6A20
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC6A19
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: ACADM
disease_id: OMIM:201450
disease_name: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
gene_symbol: PRODH
disease_id: OMIM:239500
disease_name: HYPERPROLINEMIA, TYPE I
gene_symbol: MCCC2
disease_id: OMIM:210210
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
gene_symbol: GLYCTK
disease_id: ORPHA:941
disease_name: D-glyceric aciduria
D-glycerate kinase deficiency
D-glyceric acidemia
gene_symbol: ALDH4A1
disease_id: OMIM:239510
disease_name: HYPERPROLINEMIA, TYPE II
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
Phenotype: Increased glutamine family amino acid level in urine (HP:0033093)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: SLC3A1
disease_id: OMIM:220100
disease_name: CYSTINURIA
gene_symbol: SLC7A9
disease_id: OMIM:220100
disease_name: CYSTINURIA
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
Phenotype: Oval face (HP:0000300)
Associated genes and diseases:
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: TP63
disease_id: OMIM:106260
disease_name: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: SH2B1
disease_id: ORPHA:261222
disease_name: Distal 16p11.2 microdeletion syndrome
Distal del(16)(p11.2)
Distal monosomy 16p11.2
gene_symbol: TSPEAR
disease_id: OMIM:618180
disease_name: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: ADARB1
disease_id: OMIM:618862
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: CNTN1
disease_id: OMIM:612540
disease_name: MYOPATHY, CONGENITAL, COMPTON-NORTH
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: NFIX
disease_id: ORPHA:420179
disease_name: Malan overgrowth syndrome
Sotos syndrome 2
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
Phenotype: Peripapillary atrophy (HP:0500087)
Associated genes and diseases:
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: SCAPER
disease_id: OMIM:618195
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: TUB
disease_id: OMIM:616188
disease_name: RETINAL DYSTROPHY AND OBESITY
gene_symbol: POMGNT1
disease_id: OMIM:617123
disease_name: RETINITIS PIGMENTOSA 76
gene_symbol: ZNF408
disease_id: OMIM:616469
disease_name: RETINITIS PIGMENTOSA 72
gene_symbol: HGSNAT
disease_id: OMIM:616544
disease_name: RETINITIS PIGMENTOSA 73
gene_symbol: MMP19
disease_id: OMIM:611543
disease_name: CAVITARY OPTIC DISC ANOMALIES
gene_symbol: TUBB4B
disease_id: OMIM:617879
disease_name: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
gene_symbol: CNGA3
disease_id: OMIM:216900
disease_name: ACHROMATOPSIA 2
gene_symbol: TULP1
disease_id: OMIM:613843
disease_name: LEBER CONGENITAL AMAUROSIS 15
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: KLHL7
disease_id: OMIM:612943
disease_name: RETINITIS PIGMENTOSA 42
Phenotype: Malar prominence (HP:0010620)
Associated genes and diseases:
gene_symbol: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: LAS1L
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: HDAC8
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: CTDP1
disease_id: OMIM:604168
disease_name: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: NSMCE2
disease_id: ORPHA:436182
disease_name: Microcephalic primordial dwarfism-insulin resistance syndrome
gene_symbol: XRCC4
disease_id: ORPHA:436182
disease_name: Microcephalic primordial dwarfism-insulin resistance syndrome
gene_symbol: HBB
disease_id: ORPHA:231226
disease_name: Dominant beta-thalassemia
Inclusion body beta-thalassemia
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
Phenotype: Facial myokymia (HP:0000317)
Associated genes and diseases:
gene_symbol: PPP2R2B
disease_id: OMIM:604326
disease_name: SPINOCEREBELLAR ATAXIA 12
gene_symbol: ADCY5
disease_id: OMIM:606703
disease_name: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA
gene_symbol: ADCY5
disease_id: ORPHA:324588
disease_name: Familial dyskinesia and facial myokymia
FDFM
gene_symbol: LGI3
disease_id: OMIM:620007
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
gene_symbol: ATP13A2
disease_id: ORPHA:513436
disease_name: Autosomal recessive spastic paraplegia type 78
SPG78
gene_symbol: PNPT1
disease_id: OMIM:608703
disease_name: SPINOCEREBELLAR ATAXIA 25
gene_symbol: PNPT1
disease_id: ORPHA:101111
disease_name: Spinocerebellar ataxia type 25
SCA25
gene_symbol: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
gene_symbol: PRKCG
disease_id: OMIM:605361
disease_name: SPINOCEREBELLAR ATAXIA 14
Phenotype: Spasticity of facial muscles (HP:0002491)
Associated genes and diseases:
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: SCN4A
disease_id: ORPHA:99734
disease_name: Myotonia fluctuans
Exercise-induced delayed-onset myotonia
Fluctuating myotonia