TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal mandible condylar process morphology (HP:3000077)
Associated genes and diseases:
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: 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: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1
Phenotype: Abnormal levator palpebrae superioris morphology (HP:3000072)
Associated genes and diseases:
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: KIF21A
disease_id: OMIM:135700
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: OMIM:600638
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
Phenotype: Abnormal lingual nerve morphology (HP:3000075)
Associated genes and diseases:
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated genes and diseases:
gene_symbol: FLT1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: STOX1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: CORIN
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: AVPR2
disease_id: OMIM:300539
disease_name: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
gene_symbol: NOS3
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ECE1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: PTGIS
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: CYP3A5
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: GNB3
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ATP1B1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: RGS5
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ADD1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: AGTR1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
Phenotype: Cranium bifidum occultum (HP:0004423)
Associated genes and diseases:
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: ALX1
disease_id: ORPHA:306542
disease_name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
Phenotype: Flat forehead (HP:0004425)
Associated genes and diseases:
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: CHST14
disease_id: OMIM:601776
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: B4GALT7
disease_id: OMIM:130070
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
gene_symbol: CAMK2G
disease_id: OMIM:618522
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: EXT2
disease_id: ORPHA:466926
disease_name: Seizures-scoliosis-macrocephaly syndrome
SSM syndrome
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: LRP5
disease_id: OMIM:144750
disease_name: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KCNH1
disease_id: OMIM:611816
disease_name: TEMPLE-BARAITSER SYNDROME
Phenotype: Elfin facies (HP:0004428)
Associated genes and diseases:
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
gene_symbol: FARSA
disease_id: OMIM:619013
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated genes and diseases:
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: EEF2
disease_id: OMIM:609306
disease_name: SPINOCEREBELLAR ATAXIA 26
gene_symbol: EEF2
disease_id: ORPHA:101112
disease_name: Spinocerebellar ataxia type 26
SCA26
gene_symbol: POLR3B
disease_id: OMIM:614381
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: STXBP1
disease_id: OMIM:612164
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
Phenotype: Septate vagina (HP:0001153)
Associated genes and diseases:
gene_symbol: MKKS
disease_id: OMIM:236700
disease_name: MCKUSICK-KAUFMAN SYNDROME
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: WT1
disease_id: OMIM:608978
disease_name: MEACHAM SYNDROME
gene_symbol: WT1
disease_id: OMIM:194080
disease_name: DENYS-DRASH SYNDROME
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: GATA3
disease_id: ORPHA:2237
disease_name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Barakat syndrome
HDR syndrome
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
gene_symbol: GATA3
disease_id: OMIM:146255
disease_name: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
gene_symbol: CCNQ
disease_id: OMIM:300707
disease_name: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: MNX1
disease_id: OMIM:176450
disease_name: CURRARINO SYNDROME
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
Phenotype: Corneal degeneration (HP:0007705)
Associated genes and diseases:
gene_symbol: COL8A2
disease_id: OMIM:136800
disease_name: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
Phenotype: Congenital aphakia (HP:0007707)
Associated genes and diseases:
gene_symbol: MT-CYB
disease_id: ORPHA:137675
disease_name: Histiocytoid cardiomyopathy
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
gene_symbol: FOXE3
disease_id: ORPHA:83461
disease_name: Congenital primary aphakia
gene_symbol: FOXE3
disease_id: OMIM:610256
disease_name: ANTERIOR SEGMENT DYSGENESIS 2
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
Phenotype: Secretory IgA deficiency (HP:0004433)
Associated genes and diseases:
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
Phenotype: Decreased circulating complement C8 concentration (HP:0004434)
Associated genes and diseases:
gene_symbol: C8B
disease_id: OMIM:613789
disease_name: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
gene_symbol: C8A
disease_id: OMIM:613790
disease_name: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
Phenotype: Hyperostosis frontalis interna (HP:0004438)
Associated genes and diseases:
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
Phenotype: Craniofacial dysostosis (HP:0004439)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:123500
disease_name: CROUZON SYNDROME
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: POLR1C
disease_id: OMIM:248390
disease_name: TREACHER COLLINS SYNDROME 3
gene_symbol: EDNRA
disease_id: OMIM:616367
disease_name: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
gene_symbol: RPS26
disease_id: OMIM:613309
disease_name: DIAMOND-BLACKFAN ANEMIA 10
gene_symbol: EFTUD2
disease_id: OMIM:610536
disease_name: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
gene_symbol: SLC25A24
disease_id: ORPHA:2095
disease_name: Gorlin-Chaudhry-Moss syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
GCM syndrome
gene_symbol: MSX2
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: ALX4
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
Phenotype: Band-shaped corneal dystrophy (HP:0007709)
Associated genes and diseases:
gene_symbol: DCN
disease_id: OMIM:610048
disease_name: CORNEAL DYSTROPHY, CONGENITAL STROMAL
gene_symbol: MCOLN1
disease_id: OMIM:620763
disease_name: CORNEAL DYSTROPHY, LISCH EPITHELIAL
Phenotype: Peripheral vitreous opacities (HP:0007710)
Associated genes and diseases:
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
Phenotype: Weak extraocular muscles (HP:0007715)
Associated genes and diseases:
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: ACTN2
disease_id: OMIM:618654
disease_name: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES
Phenotype: Uveal melanoma (HP:0007716)
Associated genes and diseases:
gene_symbol: BAP1
disease_id: OMIM:614327
disease_name: TUMOR PREDISPOSITION SYNDROME
gene_symbol: BAP1
disease_id: OMIM:606661
disease_name: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2
gene_symbol: MBD4
disease_id: OMIM:619975
disease_name: TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: MBD4
disease_id: OMIM:606660
disease_name: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1
gene_symbol: BRAF
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
gene_symbol: STK11
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
gene_symbol: CYSLTR2
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNAQ
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNA11
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: SF3B1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
Phenotype: Chronic irritative conjunctivitis (HP:0007717)
Associated genes and diseases:
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated genes and diseases:
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: SEC24D
disease_id: OMIM:616294
disease_name: COLE-CARPENTER SYNDROME 2
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: ZIC1
disease_id: OMIM:618736
disease_name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: SLC4A10
disease_id: OMIM:620746
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
gene_symbol: FGFR2
disease_id: OMIM:207410
disease_name: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:123500
disease_name: CROUZON SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: POR
disease_id: OMIM:207410
disease_name: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: RAC3
disease_id: OMIM:618577
disease_name: NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
Phenotype: Spherocytosis (HP:0004444)
Associated genes and diseases:
gene_symbol: SPTB
disease_id: OMIM:616649
disease_name: SPHEROCYTOSIS, TYPE 2
gene_symbol: SPTB
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SLC4A1
disease_id: OMIM:612653
disease_name: SPHEROCYTOSIS, TYPE 4
gene_symbol: SLC4A1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: ANK1
disease_id: ORPHA:251066
disease_name: 8p11.2 deletion syndrome
Del(8)(p11.2)
Monosomy 8p11.2
gene_symbol: ANK1
disease_id: OMIM:182900
disease_name: SPHEROCYTOSIS, TYPE 1
gene_symbol: ANK1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: EPB42
disease_id: OMIM:612690
disease_name: SPHEROCYTOSIS, TYPE 5
gene_symbol: EPB42
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: RHAG
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: RHCE
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: RHD
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: SPTA1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTA1
disease_id: OMIM:270970
disease_name: SPHEROCYTOSIS, TYPE 3
Phenotype: Elliptocytosis (HP:0004445)
Associated genes and diseases:
gene_symbol: EPB41
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: EPB41
disease_id: OMIM:611804
disease_name: ELLIPTOCYTOSIS 1
gene_symbol: GYPC
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTB
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTB
disease_id: OMIM:617948
disease_name: ELLIPTOCYTOSIS 3
gene_symbol: SPTA1
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTA1
disease_id: OMIM:266140
disease_name: PYROPOIKILOCYTOSIS, HEREDITARY
gene_symbol: SPTA1
disease_id: OMIM:130600
disease_name: ELLIPTOCYTOSIS 2
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: AMMECR1
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: KCNE5
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: ACSL4
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: NHLRC2
disease_id: OMIM:618278
disease_name: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
gene_symbol: GATA1
disease_id: OMIM:300835
disease_name: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
gene_symbol: SLC4A1
disease_id: OMIM:166900
disease_name: OVALOCYTOSIS, SOUTHEAST ASIAN