TaoMedAI/RareMedData huggingface dataset:
Phenotype: Infra-orbital crease (HP:0100876)
Associated genes and diseases:
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
gene_symbol: SOX4
disease_id: OMIM:618506
disease_name: COFFIN-SIRIS SYNDROME 10
gene_symbol: DHPS
disease_id: OMIM:618480
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
gene_symbol: MDH1
disease_id: OMIM:618959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88
gene_symbol: AARS1
disease_id: OMIM:619691
disease_name: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: PUS7
disease_id: OMIM:618342
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
Phenotype: Enlarged ovaries (HP:0100879)
Associated genes and diseases:
gene_symbol: CYB5A
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: CYP17A1
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: ESR1
disease_id: ORPHA:785
disease_name: Estrogen resistance syndrome
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: FSHR
disease_id: ORPHA:64739
disease_name: Ovarian hyperstimulation syndrome
OHSS
gene_symbol: CYP19A1
disease_id: ORPHA:91
disease_name: Aromatase deficiency
Congenital estrogen deficiency
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
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
Phenotype: Abnormal MHC surface expression (HP:6001190)
Associated genes and diseases:
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: OMIM:620818
disease_name: MHC CLASS II DEFICIENCY 5
gene_symbol: RFX5
disease_id: OMIM:620816
disease_name: MHC CLASS II DEFICIENCY 3
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
Phenotype: Slender proximal phalanx of finger (HP:0012297)
Associated genes and diseases:
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Phenotype: Long distal phalanx of finger (HP:0012299)
Associated genes and diseases:
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Phenotype: Abnormal genital pigmentation (HP:0012293)
Associated genes and diseases:
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
Phenotype: Slender distal phalanx of finger (HP:0012296)
Associated genes and diseases:
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Phenotype: Hyposerinemia (HP:0012279)
Associated genes and diseases:
gene_symbol: PSAT1
disease_id: ORPHA:284417
disease_name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
PSAT deficiency, infantile/juvenile form
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
gene_symbol: PSPH
disease_id: ORPHA:79350
disease_name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
PSPH deficiency, infantile/juvenile form
gene_symbol: PSPH
disease_id: OMIM:614023
disease_name: PHOSPHOSERINE PHOSPHATASE DEFICIENCY
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
Phenotype: Nephrogenic rest (HP:0100880)
Associated genes and diseases:
gene_symbol: DIS3L2
disease_id: OMIM:267000
disease_name: PERLMAN SYNDROME
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
Phenotype: Abnormal ductus choledochus morphology (HP:0100889)
Associated genes and diseases:
gene_symbol: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: MED12
disease_id: ORPHA:1415
disease_name: Hardikar syndrome
Cholestasis-pigmentary retinopathy-cleft palate syndrome
HDKR
MED12-related Hardikar syndrome
Phenotype: Hypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287)
Associated genes and diseases:
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: LHX3
disease_id: ORPHA:231720
disease_name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
Phenotype: Facial neoplasm (HP:0012289)
Associated genes and diseases:
gene_symbol: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Phenotype: Morbilliform rash (HP:0012282)
Associated genes and diseases:
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: VCAN
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: GZF1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: KCNJ13
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LRP2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: BMP4
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLITRK6
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: P3H2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LOXL3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: VCAN
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: GZF1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: KCNJ13
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LRP2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: BMP4
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLITRK6
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: P3H2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LOXL3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
Phenotype: Hepatic amyloidosis (HP:0012280)
Associated genes and diseases:
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: B2M
disease_id: OMIM:620659
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6
gene_symbol: B2M
disease_id: ORPHA:314652
disease_name: Variant ABeta2M amyloidosis
Autosomal dominant beta2-microglobulinic amyloidosis
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
Phenotype: Autosomal dominant inheritance with maternal imprinting (HP:0012275)
Associated genes and diseases:
gene_symbol: MKRN3
disease_id: OMIM:615346
disease_name: PRECOCIOUS PUBERTY, CENTRAL, 2
gene_symbol: KANK1
disease_id: OMIM:612900
disease_name: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2
Phenotype: Digital flexor tenosynovitis (HP:0012276)
Associated genes and diseases:
gene_symbol: TTR
disease_id: OMIM:115430
disease_name: CARPAL TUNNEL SYNDROME
gene_symbol: IL10
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: SLC22A4
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: PTPN22
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: CIITA
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: CD244
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: NFKBIL1
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
Phenotype: Hypoglycinemia (HP:0012277)
Associated genes and diseases:
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
Phenotype: Abnormal circulating serine concentration (HP:0012278)
Associated genes and diseases:
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: PSAT1
disease_id: ORPHA:284417
disease_name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
PSAT deficiency, infantile/juvenile form
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
gene_symbol: PSPH
disease_id: ORPHA:79350
disease_name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
PSPH deficiency, infantile/juvenile form
gene_symbol: PSPH
disease_id: OMIM:614023
disease_name: PHOSPHOSERINE PHOSPHATASE DEFICIENCY
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
Phenotype: Episodic upper airway obstruction (HP:0012271)
Associated genes and diseases:
gene_symbol: F12
disease_id: OMIM:610618
disease_name: ANGIOEDEMA, HEREDITARY, TYPE III
Phenotype: J wave (HP:0012272)
Associated genes and diseases:
gene_symbol: CACNA1C
disease_id: OMIM:611875
disease_name: BRUGADA SYNDROME 3
Phenotype: Decreased muscle glycogen content (HP:0012270)
Associated genes and diseases:
gene_symbol: GYS1
disease_id: OMIM:611556
disease_name: GLYCOGEN STORAGE DISEASE 0, MUSCLE
gene_symbol: GYG1
disease_id: ORPHA:263297
disease_name: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
GSD type 15
GSD type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis type 15
Glycogenosis type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
Phenotype: Absent central microtubular pair morphology of respiratory motile cilia (HP:0012264)
Associated genes and diseases:
gene_symbol: DNAJB13
disease_id: OMIM:617091
disease_name: CILIARY DYSKINESIA, PRIMARY, 34
gene_symbol: NME5
disease_id: OMIM:620032
disease_name: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated genes and diseases:
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: DRC1
disease_id: OMIM:615294
disease_name: CILIARY DYSKINESIA, PRIMARY, 21
gene_symbol: RSPH3
disease_id: OMIM:616481
disease_name: CILIARY DYSKINESIA, PRIMARY, 32
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: ODAD2
disease_id: OMIM:615451
disease_name: CILIARY DYSKINESIA, PRIMARY, 23
gene_symbol: CCNO
disease_id: OMIM:615872
disease_name: CILIARY DYSKINESIA, PRIMARY, 29
gene_symbol: DRC4
disease_id: OMIM:616726
disease_name: CILIARY DYSKINESIA, PRIMARY, 33
gene_symbol: STK36
disease_id: OMIM:619436
disease_name: CILIARY DYSKINESIA, PRIMARY, 46
gene_symbol: DNAI2
disease_id: OMIM:612444
disease_name: CILIARY DYSKINESIA, PRIMARY, 9
gene_symbol: RSPH4A
disease_id: OMIM:612649
disease_name: CILIARY DYSKINESIA, PRIMARY, 11
gene_symbol: HYDIN
disease_id: OMIM:608647
disease_name: CILIARY DYSKINESIA, PRIMARY, 5
gene_symbol: RSPH1
disease_id: OMIM:615481
disease_name: CILIARY DYSKINESIA, PRIMARY, 24
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: RSPH9
disease_id: OMIM:612650
disease_name: CILIARY DYSKINESIA, PRIMARY, 12
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: ODAD3
disease_id: OMIM:616037
disease_name: CILIARY DYSKINESIA, PRIMARY, 30
gene_symbol: DRC2
disease_id: OMIM:615504
disease_name: CILIARY DYSKINESIA, PRIMARY, 27
gene_symbol: DNAAF19
disease_id: OMIM:614679
disease_name: CILIARY DYSKINESIA, PRIMARY, 17
gene_symbol: DNAH11
disease_id: OMIM:611884
disease_name: CILIARY DYSKINESIA, PRIMARY, 7
gene_symbol: SPAG1
disease_id: OMIM:615505
disease_name: CILIARY DYSKINESIA, PRIMARY, 28
gene_symbol: DNAL1
disease_id: OMIM:614017
disease_name: CILIARY DYSKINESIA, PRIMARY, 16
gene_symbol: NME8
disease_id: OMIM:610852
disease_name: CILIARY DYSKINESIA, PRIMARY, 6
gene_symbol: DNAH5
disease_id: OMIM:608644
disease_name: CILIARY DYSKINESIA, PRIMARY, 3
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
gene_symbol: DNAAF2
disease_id: OMIM:612518
disease_name: CILIARY DYSKINESIA, PRIMARY, 10
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
Phenotype: Cyst of the ductus choledochus (HP:0100890)
Associated genes and diseases:
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: MED12
disease_id: ORPHA:1415
disease_name: Hardikar syndrome
Cholestasis-pigmentary retinopathy-cleft palate syndrome
HDKR
MED12-related Hardikar syndrome
Phenotype: Rectal polyposis (HP:0100896)
Associated genes and diseases:
gene_symbol: MUTYH
disease_id: ORPHA:247798
disease_name: MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related AFAP
MUTYH-related attenuated FAP
MUTYH-related attenuated familial polyposis coli
gene_symbol: BMPR1A
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: BMPR1A
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: SMAD4
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: ENG
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: GREM1
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
Phenotype: Connective tissue nevi (HP:0100898)
Associated genes and diseases:
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: IFNG
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: TSC2
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: TSC2
disease_id: ORPHA:538
disease_name: Lymphangioleiomyomatosis
LAM
gene_symbol: TSC1
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: TSC1
disease_id: OMIM:191100
disease_name: TUBEROUS SCLEROSIS 1
gene_symbol: TSC1
disease_id: ORPHA:538
disease_name: Lymphangioleiomyomatosis
LAM
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: SLC25A24
disease_id: ORPHA:2963
disease_name: Progeroid syndrome, Petty type
Fontaine progeroid syndrome
Petty syndrome
Petty-Laxova-Wiedemann syndrome
gene_symbol: LEMD3
disease_id: OMIM:166700
disease_name: BUSCHKE-OLLENDORFF SYNDROME
Phenotype: Sclerosis of finger phalanx (HP:0100899)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: OMIM:218400
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
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
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
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
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
Phenotype: T-wave alternans (HP:0012266)
Associated genes and diseases:
gene_symbol: SCN4B
disease_id: OMIM:611819
disease_name: LONG QT SYNDROME 10
gene_symbol: CALM1
disease_id: OMIM:616247
disease_name: LONG QT SYNDROME 14
gene_symbol: CALM3
disease_id: OMIM:618782
disease_name: LONG QT SYNDROME 16
Phenotype: Absent respiratory ciliary axoneme radial spokes (HP:0012267)
Associated genes and diseases:
gene_symbol: RSPH3
disease_id: OMIM:616481
disease_name: CILIARY DYSKINESIA, PRIMARY, 32
Phenotype: Abnormal central microtubular pair morphology of respiratory motile cilia (HP:0012260)
Associated genes and diseases:
gene_symbol: RSPH9
disease_id: OMIM:612650
disease_name: CILIARY DYSKINESIA, PRIMARY, 12
gene_symbol: RSPH4A
disease_id: OMIM:612649
disease_name: CILIARY DYSKINESIA, PRIMARY, 11