TaoMedAI/RareMedData huggingface dataset:
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated genes and diseases:
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: HMGCL
disease_id: ORPHA:20
disease_name: 3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria
gene_symbol: AKT2
disease_id: ORPHA:293964
disease_name: Hypoinsulinemic hypoglycemia and body hemihypertrophy
gene_symbol: RET
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: ITGA8
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: FGF20
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: GFRA1
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: WNT9B
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: GREB1L
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: ACAD9
disease_id: ORPHA:99901
disease_name: Acyl-CoA dehydrogenase 9 deficiency
ACAD9 deficiency
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: MEN1
disease_id: ORPHA:97279
disease_name: Insulinoma
gene_symbol: YY1
disease_id: ORPHA:97279
disease_name: Insulinoma
Phenotype: Distal tibiofibular synostosis (HP:6000650)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:200700
disease_name: CHONDRODYSPLASIA, GREBE TYPE
Phenotype: Rib spur (HP:6000652)
Associated genes and diseases:
gene_symbol: MESP2
disease_id: OMIM:277300
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
gene_symbol: DLL3
disease_id: OMIM:277300
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
Phenotype: Crescent-shaped iliac bone (HP:6000653)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: COL2A1
disease_id: OMIM:200610
disease_name: ACHONDROGENESIS, TYPE II
Phenotype: Abnormal ischium ossification (HP:6000654)
Associated genes and diseases:
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
Phenotype: Papillary dermis eosinophilic hyaline material (HP:6000656)
Associated genes and diseases:
gene_symbol: ECM1
disease_id: OMIM:247100
disease_name: LIPOID PROTEINOSIS OF URBACH AND WIETHE
Phenotype: Pancreatic intraductal papillary mucinous neoplasm (HP:6000657)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: OMIM:174800
disease_name: MCCUNE-ALBRIGHT SYNDROME
Phenotype: Elevated muscle fiber laminin alpha 5 expression (HP:6000659)
Associated genes and diseases:
gene_symbol: LAMA2
disease_id: OMIM:618138
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
Phenotype: Activating thyroid-stimulating hormone receptor defect (HP:0011790)
Associated genes and diseases:
gene_symbol: TSHR
disease_id: ORPHA:99819
disease_name: Familial gestational hyperthyroidism
gene_symbol: TSHR
disease_id: ORPHA:424
disease_name: Familial hyperthyroidism due to mutations in TSH receptor
Familial non-immune hyperthyroidism
Resistance to thyroid stimulating hormone
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated genes and diseases:
gene_symbol: HSD11B2
disease_id: ORPHA:320
disease_name: Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
gene_symbol: BSND
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKB
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKB
disease_id: OMIM:607364
disease_name: BARTTER SYNDROME, TYPE 3
gene_symbol: CLCNKA
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: HLA-B
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: IKZF1
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: RRAGD
disease_id: ORPHA:73224
disease_name: Kidney tubulopathy-dilated cardiomyopathy syndrome
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
Phenotype: Abnormal speech discrimination (HP:0001963)
Associated genes and diseases:
gene_symbol: TMEM43
disease_id: OMIM:619832
disease_name: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3
gene_symbol: KPTN
disease_id: ORPHA:397612
disease_name: Macrocephaly-developmental delay syndrome
gene_symbol: DIAPH3
disease_id: OMIM:609129
disease_name: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
gene_symbol: ATP11A
disease_id: OMIM:620384
disease_name: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2
gene_symbol: AIFM1
disease_id: OMIM:300614
disease_name: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY
Phenotype: Cutaneous telangiectasia (HP:0034697)
Associated genes and diseases:
gene_symbol: POLH
disease_id: OMIM:278750
disease_name: XERODERMA PIGMENTOSUM, VARIANT TYPE
gene_symbol: PCNA
disease_id: OMIM:615919
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
Phenotype: Thick anterior alveolar ridges (HP:0009100)
Associated genes and diseases:
gene_symbol: CD96
disease_id: OMIM:211750
disease_name: C SYNDROME
Phenotype: Submucous cleft lip (HP:0009101)
Associated genes and diseases:
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Phenotype: Abnormal ossification of the pubic bone (HP:0009105)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
gene_symbol: COL2A1
disease_id: ORPHA:93296
disease_name: Achondrogenesis type 2
Achondrogenesis, Langer-Saldino type
gene_symbol: COL2A1
disease_id: OMIM:184250
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
gene_symbol: COL2A1
disease_id: ORPHA:1856
disease_name: Spondyloperipheral dysplasia-short ulna syndrome
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: CBFB
disease_id: OMIM:620099
disease_name: CLEIDOCRANIAL DYSPLASIA 2
gene_symbol: NKX3-2
disease_id: OMIM:613330
disease_name: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
gene_symbol: FGFR2
disease_id: ORPHA:313855
disease_name: FGFR2-related bent bone dysplasia
Perinatal lethal bent bone dysplasia
Phenotype: Abnormal pelvis bone ossification (HP:0009106)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
gene_symbol: COL2A1
disease_id: ORPHA:93296
disease_name: Achondrogenesis type 2
Achondrogenesis, Langer-Saldino type
gene_symbol: COL2A1
disease_id: OMIM:184250
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
gene_symbol: COL2A1
disease_id: ORPHA:1856
disease_name: Spondyloperipheral dysplasia-short ulna syndrome
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: CBFB
disease_id: OMIM:620099
disease_name: CLEIDOCRANIAL DYSPLASIA 2
gene_symbol: NKX3-2
disease_id: OMIM:613330
disease_name: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
gene_symbol: LEMD3
disease_id: ORPHA:166119
disease_name: Isolated osteopoikilosis
gene_symbol: DYNC2I1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: IFT80
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: WDR35
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I2
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: LBR
disease_id: ORPHA:1426
disease_name: Greenberg dysplasia
HEM dysplasia
Hydrops-ectopic calcification-motheaten syndrome
Skeletal dysplasia, Greenberg type
gene_symbol: FGFR2
disease_id: ORPHA:313855
disease_name: FGFR2-related bent bone dysplasia
Perinatal lethal bent bone dysplasia
Phenotype: Hypersplenism (HP:0001971)
Associated genes and diseases:
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: TET2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: CBL
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: RUNX1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: SMPD1
disease_id: ORPHA:77293
disease_name: Chronic visceral acid sphingomyelinase deficiency
Chronic visceral ASMD
NPD-B
Niemann-Pick disease type B
gene_symbol: GBA1
disease_id: OMIM:230800
disease_name: GAUCHER DISEASE, TYPE I
gene_symbol: GBA1
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
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
gene_symbol: ITCH
disease_id: OMIM:613385
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
gene_symbol: ITCH
disease_id: ORPHA:228426
disease_name: Syndromic multisystem autoimmune disease due to Itch deficiency
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: NOTCH1
disease_id: OMIM:616028
disease_name: ADAMS-OLIVER SYNDROME 5
gene_symbol: DZIP1L
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: PKHD1
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: PSAP
disease_id: OMIM:610539
disease_name: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
gene_symbol: SCARB2
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
Phenotype: Decreased platelet glycoprotein IIb-IIIa (HP:0001975)
Associated genes and diseases:
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
gene_symbol: ITGB3
disease_id: OMIM:619267
disease_name: GLANZMANN THROMBASTHENIA 2
Phenotype: Denervation of the diaphragm (HP:0009109)
Associated genes and diseases:
gene_symbol: GDAP1
disease_id: ORPHA:99948
disease_name: Charcot-Marie-Tooth disease type 4A
CMT4A
gene_symbol: IGHMBP2
disease_id: OMIM:604320
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1
Phenotype: Elevated urinary L-glycerate level (HP:6000670)
Associated genes and diseases:
gene_symbol: GRHPR
disease_id: OMIM:260000
disease_name: HYPEROXALURIA, PRIMARY, TYPE II
Phenotype: Elevated urinary mevalonate lactone level (HP:6000675)
Associated genes and diseases:
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
Phenotype: Megaloblastic bone marrow (HP:0001980)
Associated genes and diseases:
gene_symbol: MTRR
disease_id: ORPHA:2169
disease_name: Methylcobalamin deficiency type cblE
Functional methionine synthase deficiency type cblE
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: MMADHC
disease_id: ORPHA:79283
disease_name: Methylmalonic acidemia with homocystinuria, type cblD
CblD defect
Cobalamin D defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
Methylmalonic aciduria with homocystinuria, type cblD
gene_symbol: TCN2
disease_id: OMIM:275350
disease_name: TRANSCOBALAMIN II DEFICIENCY
gene_symbol: TCN2
disease_id: ORPHA:859
disease_name: Transcobalamin deficiency
Inherited deficiency of transcobalamin
Transcobalamin II deficiency
Phenotype: Schistocytosis (HP:0001981)
Associated genes and diseases:
gene_symbol: KLF1
disease_id: OMIM:613673
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV
gene_symbol: CAD
disease_id: OMIM:616457
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
gene_symbol: C1GALT1C1
disease_id: OMIM:301110
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
gene_symbol: SLC19A1
disease_id: OMIM:601775
disease_name: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE
gene_symbol: ADAMTS13
disease_id: OMIM:274150
disease_name: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: SLC4A1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: PIEZO1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: KCNN4
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: CFHR3
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFH
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFHR1
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CDAN1
disease_id: OMIM:224120
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia
Phenotype: Sea-blue histiocytosis (HP:0001982)
Associated genes and diseases:
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: SMPD1
disease_id: OMIM:257200
disease_name: NIEMANN-PICK DISEASE, TYPE A
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: NPC1
disease_id: OMIM:257220
disease_name: NIEMANN-PICK DISEASE, TYPE C1
gene_symbol: APOE
disease_id: OMIM:269600
disease_name: SEA-BLUE HISTIOCYTE DISEASE
Phenotype: Reduced lymphocyte surface expression of CD43 (HP:0001983)
Associated genes and diseases:
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
Phenotype: Intolerance to protein (HP:0001984)
Associated genes and diseases:
gene_symbol: CLMP
disease_id: OMIM:615237
disease_name: CONGENITAL SHORT BOWEL SYNDROME
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
Phenotype: Hypertonic dehydration (HP:0001986)
Associated genes and diseases:
gene_symbol: SLC5A1
disease_id: OMIM:606824
disease_name: GLUCOSE/GALACTOSE MALABSORPTION
gene_symbol: AQP2
disease_id: OMIM:125800
disease_name: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
gene_symbol: AVPR2
disease_id: OMIM:304800
disease_name: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
gene_symbol: SPINK5
disease_id: OMIM:256500
disease_name: NETHERTON SYNDROME
gene_symbol: CA12
disease_id: OMIM:143860
disease_name: HYPERCHLORHIDROSIS, ISOLATED
gene_symbol: KRT10
disease_id: OMIM:620707
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE
Phenotype: Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)
Associated genes and diseases:
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
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: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: CTSK
disease_id: OMIM:265800
disease_name: PYCNODYSOSTOSIS
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
gene_symbol: ALX3
disease_id: ORPHA:391474
disease_name: Frontorhiny
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: SFRP4
disease_id: OMIM:265900
disease_name: PYLE DISEASE
gene_symbol: SIX2
disease_id: ORPHA:488437
disease_name: SIX2-related frontonasal dysplasia
SIX2-related FND
gene_symbol: ALX1
disease_id: ORPHA:306542
disease_name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
Phenotype: Mixed hypo- and hyperpigmentation of the skin (HP:0009123)
Associated genes and diseases:
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
gene_symbol: ADAR
disease_id: OMIM:127400
disease_name: DYSCHROMATOSIS SYMMETRICA HEREDITARIA
gene_symbol: SASH1
disease_id: OMIM:127500
disease_name: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: KRT5
disease_id: ORPHA:79397
disease_name: Epidermolysis bullosa simplex with mottled pigmentation
EBS with mottled pigmentation
EBS-MP
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79399
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized EBS, intermediate form
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
gene_symbol: KRT5
disease_id: ORPHA:79400
disease_name: Localized epidermolysis bullosa simplex
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized EBS
gene_symbol: KRT14
disease_id: ORPHA:79397
disease_name: Epidermolysis bullosa simplex with mottled pigmentation
EBS with mottled pigmentation
EBS-MP
gene_symbol: KRT14
disease_id: ORPHA:79399
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized EBS, intermediate form
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
gene_symbol: KRT14
disease_id: ORPHA:79400
disease_name: Localized epidermolysis bullosa simplex
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized EBS
gene_symbol: POGLUT1
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