TaoMedAI/RareMedData huggingface dataset:
Phenotype: Genital blistering (HP:0031464)
Associated genes and diseases:
gene_symbol: COL17A1
disease_id: ORPHA:79406
disease_name: Late-onset junctional epidermolysis bullosa
Epidermolysis bullosa progressiva
JEB-lo
Late-onset JEB
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79409
disease_name: Recessive dystrophic epidermolysis bullosa inversa
RDEB inversa
RDEB-I
gene_symbol: COL7A1
disease_id: ORPHA:79410
disease_name: Localized dystrophic epidermolysis bullosa, pretibial form
DEB-Pt
Localized DEB, pretibial form
gene_symbol: COL7A1
disease_id: ORPHA:79411
disease_name: Self-improving dystrophic epidermolysis bullosa
Self-improving DEB
Transient bullous dermolysis of the newborn
gene_symbol: KRT14
disease_id: ORPHA:89838
disease_name: Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive generalized EBS
Phenotype: Abnormal negative emotional state (HP:0031467)
Associated genes and diseases:
gene_symbol: FMO3
disease_id: ORPHA:468726
disease_name: Severe primary trimethylaminuria
TMAU
gene_symbol: HTT
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: SLC2A3
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
Phenotype: Low self-esteem (HP:0031469)
Associated genes and diseases:
gene_symbol: MSX1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: NECTIN1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: TP63
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: IRF6
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: FMO3
disease_id: ORPHA:468726
disease_name: Severe primary trimethylaminuria
TMAU
gene_symbol: GABRB3
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: GABRA1
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: CACNA1H
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: JRK
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: GABRG2
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
Phenotype: Elevated urinary formiminoglutamic acid level (HP:0034742)
Associated genes and diseases:
gene_symbol: FTCD
disease_id: OMIM:229100
disease_name: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Phenotype: Elevated urinary S-sulfocysteine level (HP:0034744)
Associated genes and diseases:
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
Phenotype: Anger (HP:0031473)
Associated genes and diseases:
gene_symbol: HTT
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: SLC2A3
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
Phenotype: Inguinal lymphadenopathy (HP:0034751)
Associated genes and diseases:
gene_symbol: ISG15
disease_id: OMIM:616126
disease_name: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
gene_symbol: PLCG1
disease_id: OMIM:620514
disease_name: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION
Phenotype: Axillary lymphadenopathy (HP:0034752)
Associated genes and diseases:
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: ISG15
disease_id: OMIM:616126
disease_name: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
Phenotype: Enlargement of parotid gland (HP:0011801)
Associated genes and diseases:
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: ATP2A2
disease_id: OMIM:124200
disease_name: DARIER-WHITE DISEASE
Phenotype: Bifid nose (HP:0011803)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: TBX4
disease_id: ORPHA:261279
disease_name: 17q23.1q23.2 microdeletion syndrome
Del(17)(q23.1q23.2)
Monosomy 17q23.1q23.2
gene_symbol: ALX4
disease_id: ORPHA:228390
disease_name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia type 2
Frontonasal dysplasia with alopecia and genital abnomality
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
gene_symbol: NUAK2
disease_id: OMIM:619452
disease_name: ANENCEPHALY 2
gene_symbol: NF1
disease_id: ORPHA:139474
disease_name: 17q11.2 microduplication syndrome
Dup(17)(q11.2)
Grisart-Destrée syndrome
Trisomy 17q11.2
gene_symbol: FREM1
disease_id: ORPHA:217266
disease_name: BNAR syndrome
Bifid nose with or without anorectal and renal anomalies
gene_symbol: FREM1
disease_id: OMIM:608980
disease_name: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: NSMF
disease_id: OMIM:614838
disease_name: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
gene_symbol: HYLS1
disease_id: OMIM:236680
disease_name: HYDROLETHALUS SYNDROME 1
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
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: RYR1
disease_id: ORPHA:98905
disease_name: Congenital multicore myopathy with external ophthalmoplegia
gene_symbol: SELENON
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ACTA1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MYL2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ITGA7
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: HACD1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM3
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MAP3K20
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: LMNA
disease_id: ORPHA:98855
disease_name: Autosomal recessive Emery-Dreifuss muscular dystrophy
EDMD3
gene_symbol: LMNA
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: ALG14
disease_id: OMIM:619036
disease_name: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY
gene_symbol: EMD
disease_id: OMIM:310300
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
gene_symbol: EMD
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: SPTBN4
disease_id: OMIM:617519
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
gene_symbol: FHL1
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: TMEM43
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE1
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE2
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
Phenotype: Decreased patellar reflex (HP:0011808)
Associated genes and diseases:
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: REEP1
disease_id: OMIM:614751
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB
gene_symbol: BICD2
disease_id: OMIM:615290
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
gene_symbol: MYH14
disease_id: OMIM:614369
disease_name: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
gene_symbol: HADHB
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: HADHA
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: LDB3
disease_id: ORPHA:98912
disease_name: Late-onset distal myopathy, Markesbery-Griggs type
ZASP-related myofibrillar myopathy
gene_symbol: FBLN5
disease_id: OMIM:608895
disease_name: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
gene_symbol: DYNC1H1
disease_id: OMIM:158600
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT
gene_symbol: ATP9A
disease_id: OMIM:620242
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES
Phenotype: Paradoxical myotonia (HP:0011809)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
gene_symbol: SCN4A
disease_id: OMIM:168300
disease_name: PARAMYOTONIA CONGENITA OF VON EULENBURG
Phenotype: Bilious emesis (HP:0034754)
Associated genes and diseases:
gene_symbol: ABCD1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: RET
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: GDNF
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SMO
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ECE1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SREBF1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDN3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SEMA3D
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ATP7A
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDNRB
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SEMA3C
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB2
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: NRTN
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
Phenotype: Abnormal mitral valve leaflet morphology (HP:0031480)
Associated genes and diseases:
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: THBS2
disease_id: OMIM:620865
disease_name: OMIM:620865
Phenotype: Subperiosteal bone formation (HP:0031485)
Associated genes and diseases:
gene_symbol: GALNT3
disease_id: OMIM:211900
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
gene_symbol: COL1A1
disease_id: OMIM:114000
disease_name: CAFFEY DISEASE
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
Phenotype: Vascular malformation of the lip (HP:0031486)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: OMIM:613089
disease_name: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
gene_symbol: PIK3CA
disease_id: ORPHA:168984
disease_name: CLAPO syndrome
gene_symbol: GNA14
disease_id: ORPHA:1063
disease_name: Tufted angioma
Nakagawa angioblastoma
Phenotype: Capillary malformation of the lip (HP:0031487)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: OMIM:613089
disease_name: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
gene_symbol: PIK3CA
disease_id: ORPHA:168984
disease_name: CLAPO syndrome
Phenotype: Reduced epidermal extracellular matrix protein 1 protein expression (HP:0034760)
Associated genes and diseases:
gene_symbol: ECM1
disease_id: OMIM:247100
disease_name: LIPOID PROTEINOSIS OF URBACH AND WIETHE
Phenotype: Neurofibroma by anatomical location (HP:0034761)
Associated genes and diseases:
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NF1
disease_id: OMIM:162210
disease_name: NEUROFIBROMATOSIS, FAMILIAL SPINAL
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Phenotype: Agraphesthesia (HP:0011812)
Associated genes and diseases:
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: ATP6AP2
disease_id: ORPHA:93952
disease_name: X-linked intellectual disability, Hedera type
MRXSH
Phenotype: Increased cerebral lipofuscin (HP:0011813)
Associated genes and diseases:
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: CLN8
disease_id: OMIM:600143
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8
gene_symbol: CLN8
disease_id: OMIM:610003
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
gene_symbol: CLN6
disease_id: OMIM:204300
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
gene_symbol: CLN6
disease_id: OMIM:601780
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 6
gene_symbol: TPP1
disease_id: OMIM:204500
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 2
gene_symbol: DNAJC5
disease_id: OMIM:162350
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: PSAP
disease_id: OMIM:610539
disease_name: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
gene_symbol: TARS2
disease_id: OMIM:615918
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
Phenotype: Increased urinary hypoxanthine level (HP:0011814)
Associated genes and diseases:
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: MOCOS
disease_id: OMIM:603592
disease_name: XANTHINURIA, TYPE II
Phenotype: Parietal encephalocele (HP:0011816)
Associated genes and diseases:
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
Phenotype: Basal encephalocele (HP:0011817)
Associated genes and diseases:
gene_symbol: ALX3
disease_id: ORPHA:391474
disease_name: Frontorhiny
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
Phenotype: Nasofrontal encephalocele (HP:0011818)
Associated genes and diseases:
gene_symbol: VSX1
disease_id: OMIM:614195
disease_name: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated genes and diseases:
gene_symbol: UBB
disease_id: ORPHA:99771
disease_name: Bifid uvula
Bifidity of the uvula
Uvular cleft
gene_symbol: GRHL3
disease_id: ORPHA:99771
disease_name: Bifid uvula
Bifidity of the uvula
Uvular cleft
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: KCNK9
disease_id: OMIM:612292
disease_name: BIRK-BAREL SYNDROME
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
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
gene_symbol: STAC3
disease_id: ORPHA:168572
disease_name: Native American myopathy
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
Phenotype: Muscle fiber polyglucosan inclusion bodies (HP:0034766)
Associated genes and diseases:
gene_symbol: GYG1
disease_id: OMIM:616199
disease_name: POLYGLUCOSAN BODY MYOPATHY 2
Phenotype: Pulmonary Langerhans cell histiocytosis (HP:0034769)
Associated genes and diseases:
gene_symbol: MAP2K1
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: NRAS
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: BRAF
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
Phenotype: Hemangioma of the lip (HP:0031490)
Associated genes and diseases:
gene_symbol: GNA14
disease_id: ORPHA:1063
disease_name: Tufted angioma
Nakagawa angioblastoma
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated genes and diseases:
gene_symbol: SCN2A
disease_id: ORPHA:140927
disease_name: Self-limited neonatal-infantile epilepsy
BFNIS
Benign familial neonatal-infantile seizures
Benign neonatal-infantile epilepsy
SeLFNIE
gene_symbol: KCNQ2
disease_id: ORPHA:140927
disease_name: Self-limited neonatal-infantile epilepsy
BFNIS
Benign familial neonatal-infantile seizures
Benign neonatal-infantile epilepsy
SeLFNIE
gene_symbol: GRIN2A
disease_id: OMIM:245570
disease_name: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
gene_symbol: GRIN2A
disease_id: ORPHA:163721
disease_name: Rolandic epilepsy-speech dyspraxia syndrome
gene_symbol: GRIN2A
disease_id: ORPHA:98818
disease_name: Landau-Kleffner syndrome
Acquired epileptic aphasia
LKS
gene_symbol: GRIN2A
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: CNKSR2
disease_id: OMIM:301008
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE
gene_symbol: KCNC2
disease_id: OMIM:619913
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
gene_symbol: SRPX2
disease_id: ORPHA:163721
disease_name: Rolandic epilepsy-speech dyspraxia syndrome
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: FRRS1L
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Phenotype: Epithelial neoplasm (HP:0031492)
Associated genes and diseases:
gene_symbol: NLRP1
disease_id: OMIM:615225
disease_name: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: RSPO1
disease_id: OMIM:610644
disease_name: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
gene_symbol: CDKN1B
disease_id: OMIM:610755
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
gene_symbol: POLE
disease_id: OMIM:615083
disease_name: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
Phenotype: Lumbar hypolordosis (HP:0034770)
Associated genes and diseases:
gene_symbol: COL11A1
disease_id: OMIM:604841
disease_name: STICKLER SYNDROME, TYPE II