TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal spaced incisors (HP:0040159)
Associated genes and diseases:
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
gene_symbol: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
gene_symbol: FREM1
disease_id: OMIM:608980
disease_name: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
gene_symbol: ABCC9
disease_id: OMIM:619719
disease_name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
gene_symbol: HRAS
disease_id: ORPHA:79414
disease_name: Woolly hair nevus
Wooly hair nevus
gene_symbol: STAG1
disease_id: OMIM:617635
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
gene_symbol: TUBGCP2
disease_id: OMIM:618737
disease_name: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
gene_symbol: HMGB3
disease_id: OMIM:300915
disease_name: MICROPHTHALMIA, SYNDROMIC 13
gene_symbol: DOCK7
disease_id: ORPHA:411986
disease_name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
Phenotype: Angular cheilitis (HP:0030318)
Associated genes and diseases:
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
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: CUBN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: AMN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: DSC3
disease_id: OMIM:613102
disease_name: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
gene_symbol: KRT6B
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: KRT6B
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT17
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: KRT17
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: TMPRSS6
disease_id: ORPHA:209981
disease_name: IRIDA syndrome
Iron-refractory iron deficiency anemia
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: KRT16
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6A
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: SREBF1
disease_id: OMIM:619016
disease_name: IFAP SYNDROME 2
Phenotype: Increased intervertebral space (HP:0030320)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: TMEM53
disease_id: OMIM:619727
disease_name: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
gene_symbol: PLCB3
disease_id: OMIM:618961
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
Phenotype: Abnormal vertebral artery morphology (HP:0030321)
Associated genes and diseases:
gene_symbol: ADAMTSL1
disease_id: ORPHA:521445
disease_name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
Phenotype: Vertebral artery hypoplasia (HP:0030322)
Associated genes and diseases:
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
Phenotype: Generalized osteoporosis (HP:0040160)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL2A1
disease_id: OMIM:608805
disease_name: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: TRPV4
disease_id: OMIM:184095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
gene_symbol: CCN6
disease_id: ORPHA:1159
disease_name: Progressive pseudorheumatoid dysplasia
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
gene_symbol: TENT5A
disease_id: OMIM:617952
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVIII
gene_symbol: SATB2
disease_id: OMIM:612313
disease_name: GLASS SYNDROME
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: MEN1
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: GCM2
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: CDC73
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: LMNA
disease_id: OMIM:176670
disease_name: HUTCHINSON-GILFORD PROGERIA SYNDROME
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII
gene_symbol: MMP14
disease_id: OMIM:277950
disease_name: WINCHESTER SYNDROME
gene_symbol: GNPTAB
disease_id: ORPHA:423461
disease_name: Mucolipidosis type III alpha/beta
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
Phenotype: Orthokeratosis (HP:0040162)
Associated genes and diseases:
gene_symbol: CYP4F22
disease_id: OMIM:604777
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
gene_symbol: LORICRIN
disease_id: OMIM:604117
disease_name: VOHWINKEL SYNDROME, VARIANT FORM
gene_symbol: LORICRIN
disease_id: ORPHA:79395
disease_name: Keratoderma hereditarium mutilans with ichthyosis
Camisa disease
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis
gene_symbol: CLDN1
disease_id: OMIM:607626
disease_name: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
gene_symbol: FLG2
disease_id: OMIM:618084
disease_name: PEELING SKIN SYNDROME 6
gene_symbol: CSTA
disease_id: OMIM:607936
disease_name: PEELING SKIN SYNDROME 4
gene_symbol: KRT10
disease_id: OMIM:607602
disease_name: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
gene_symbol: KRT10
disease_id: OMIM:620707
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE
gene_symbol: NIPAL4
disease_id: OMIM:612281
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
gene_symbol: CCDC91
disease_id: ORPHA:38
disease_name: Acrokeratoelastoidosis of Costa
AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
gene_symbol: CERS3
disease_id: OMIM:615023
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
gene_symbol: GJA1
disease_id: OMIM:617525
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
gene_symbol: ENPP1
disease_id: OMIM:615522
disease_name: COLE DISEASE
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: CARD14
disease_id: OMIM:173200
disease_name: PITYRIASIS RUBRA PILARIS
gene_symbol: LIPN
disease_id: OMIM:613943
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
gene_symbol: KRT1
disease_id: OMIM:620148
disease_name: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: AAGAB
disease_id: OMIM:148600
disease_name: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA
gene_symbol: AAGAB
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: COL14A1
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
Phenotype: Periostitis (HP:0040165)
Associated genes and diseases:
gene_symbol: IL1RN
disease_id: OMIM:612852
disease_name: OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
Phenotype: Facial papilloma (HP:0040167)
Associated genes and diseases:
gene_symbol: TPP2
disease_id: OMIM:619220
disease_name: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
Phenotype: Loose anagen hair (HP:0040169)
Associated genes and diseases:
gene_symbol: SHOC2
disease_id: OMIM:607721
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
Phenotype: Cervicomedullary schisis (HP:0030325)
Associated genes and diseases:
gene_symbol: GDF6
disease_id: OMIM:118100
disease_name: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
Phenotype: Unilateral vertebral artery hypoplasia (HP:0030323)
Associated genes and diseases:
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
Phenotype: Decreased osteoclast count (HP:0030328)
Associated genes and diseases:
gene_symbol: TNFSF11
disease_id: OMIM:259710
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
Phenotype: Abnormal osteoclast count (HP:0030327)
Associated genes and diseases:
gene_symbol: TNFSF11
disease_id: OMIM:259710
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
Phenotype: Glomerular subepithelial immune-complex deposits (HP:0033601)
Associated genes and diseases:
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13
gene_symbol: WDR19
disease_id: OMIM:616307
disease_name: SENIOR-LOKEN SYNDROME 8
Phenotype: Glomerular subepithelial deposits (HP:0033603)
Associated genes and diseases:
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13
gene_symbol: WDR19
disease_id: OMIM:616307
disease_name: SENIOR-LOKEN SYNDROME 8
Phenotype: Pustular rash (HP:0033605)
Associated genes and diseases:
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: STING1
disease_id: OMIM:615934
disease_name: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: IL17RA
disease_id: OMIM:613953
disease_name: IMMUNODEFICIENCY 51
Phenotype: Bone marrow maturation arrest (HP:0033606)
Associated genes and diseases:
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: FLNA
disease_id: OMIM:300049
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 1
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: CSF3R
disease_id: OMIM:617014
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: JAGN1
disease_id: OMIM:616022
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
gene_symbol: WAS
disease_id: OMIM:300299
disease_name: NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
gene_symbol: SRP68
disease_id: OMIM:620534
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE
gene_symbol: SRP54
disease_id: OMIM:618752
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
Phenotype: Bone marrow arrest at the promyelocytic stage (HP:0033607)
Associated genes and diseases:
gene_symbol: WAS
disease_id: OMIM:300299
disease_name: NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
gene_symbol: SRP68
disease_id: OMIM:620534
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE
gene_symbol: SRP54
disease_id: OMIM:618752
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
Phenotype: Pulmonary nodule (HP:0033608)
Associated genes and diseases:
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: STAT1
disease_id: OMIM:614162
disease_name: IMMUNODEFICIENCY 31C
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
Phenotype: Abnormality of occipitofrontalis muscle (HP:0040172)
Associated genes and diseases:
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
Phenotype: Abnormality of the tongue muscle (HP:0040173)
Associated genes and diseases:
gene_symbol: GMPPB
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: FKRP
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT2
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: LARGE1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
Phenotype: Platelet-activating factor acetylhydrolase deficiency (HP:0040175)
Associated genes and diseases:
gene_symbol: PLA2G7
disease_id: OMIM:614278
disease_name: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
Phenotype: Abnormal circulating phospholipid concentration (HP:0040176)
Associated genes and diseases:
gene_symbol: PLA2G7
disease_id: OMIM:614278
disease_name: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
Phenotype: Abnormal level of platelet-activating factor (HP:0040177)
Associated genes and diseases:
gene_symbol: PLA2G7
disease_id: OMIM:614278
disease_name: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
Phenotype: Increased level of platelet-activating factor (HP:0040178)
Associated genes and diseases:
gene_symbol: PLA2G7
disease_id: OMIM:614278
disease_name: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
Phenotype: Multinucleated giant chondrocytes in epiphyseal cartilage (HP:0030330)
Associated genes and diseases:
gene_symbol: FLNB
disease_id: OMIM:108720
disease_name: ATELOSTEOGENESIS, TYPE I
Phenotype: Tracheal bronchus (HP:0033614)
Associated genes and diseases:
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
Phenotype: Chapped lip (HP:0040181)
Associated genes and diseases:
gene_symbol: PKP1
disease_id: ORPHA:158668
disease_name: Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
gene_symbol: KRT6A
disease_id: OMIM:615726
disease_name: PACHYONYCHIA CONGENITA 3
gene_symbol: ADAM17
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: EGFR
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
Phenotype: Encopresis (HP:0040183)
Associated genes and diseases:
gene_symbol: GABBR1
disease_id: OMIM:620502
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES
gene_symbol: DMPK
disease_id: ORPHA:589821
disease_name: Congenital-onset Steinert myotonic dystrophy
Congenital-onset Steinert disease
Congenital-onset myotonic dystrophy type 1
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: EXT2
disease_id: OMIM:616682
disease_name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
Phenotype: Oral bleeding (HP:0040184)
Associated genes and diseases:
gene_symbol: APOLD1
disease_id: OMIM:620715
disease_name: BLEEDING DISORDER, VASCULAR-TYPE
gene_symbol: SERPINE1
disease_id: ORPHA:465
disease_name: Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated genes and diseases:
gene_symbol: ITGA2B
disease_id: OMIM:187800
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 16
gene_symbol: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: GP1BA
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BA
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP1BB
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BB
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP9
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP9
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: TUBA8
disease_id: OMIM:619840
disease_name: MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT
gene_symbol: GATA1
disease_id: ORPHA:67044
disease_name: Thrombocytopenia with congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia with thombocytopenia
X-linked congenital dyserythropoietic anemia with thrombocytopenia
XDAT
gene_symbol: PRKACG
disease_id: OMIM:616176
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 19
gene_symbol: TUBB1
disease_id: OMIM:613112
disease_name: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
gene_symbol: DIAPH1
disease_id: OMIM:124900
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: ABCG5
disease_id: ORPHA:2882
disease_name: Sitosterolemia
Phytosterolemia
gene_symbol: ABCG8
disease_id: ORPHA:2882
disease_name: Sitosterolemia
Phytosterolemia
gene_symbol: TPM4
disease_id: OMIM:620486
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 25
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17