TaoMedAI/RareMedData huggingface dataset:
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated genes and diseases:
gene_symbol: TUBA1A
disease_id: ORPHA:171680
disease_name: Lissencephaly due to TUBA1A mutation
gene_symbol: MTHFD1
disease_id: OMIM:617780
disease_name: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
gene_symbol: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: EML1
disease_id: OMIM:600348
disease_name: BAND HETEROTOPIA
gene_symbol: CARS2
disease_id: ORPHA:477774
disease_name: Combined oxidative phosphorylation defect type 27
COXPD27
gene_symbol: OSTM1
disease_id: ORPHA:85179
disease_name: Infantile osteopetrosis with neuroaxonal dysplasia
gene_symbol: CLCN3
disease_id: OMIM:619517
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
gene_symbol: ATP1A3
disease_id: OMIM:619606
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99
gene_symbol: VPS51
disease_id: OMIM:618606
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 13
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
gene_symbol: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: POU4F1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: GRIN1
disease_id: ORPHA:208447
disease_name: Bilateral generalized polymicrogyria
Phenotype: Abnormal urine citrate concentration (HP:0012404)
Associated genes and diseases:
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: OXGR1
disease_id: OMIM:620374
disease_name: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS
Phenotype: Hypocitraturia (HP:0012405)
Associated genes and diseases:
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: OXGR1
disease_id: OMIM:620374
disease_name: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS
Phenotype: Hypercitraturia (HP:0012406)
Associated genes and diseases:
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
Phenotype: Scissor gait (HP:0012407)
Associated genes and diseases:
gene_symbol: KIF1A
disease_id: ORPHA:101010
disease_name: Autosomal spastic paraplegia type 30
SPG30
gene_symbol: AMPD2
disease_id: ORPHA:401805
disease_name: Autosomal recessive spastic paraplegia type 63
SPG63
gene_symbol: AMPD2
disease_id: OMIM:615686
disease_name: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
gene_symbol: ATP6AP2
disease_id: ORPHA:363654
disease_name: X-linked parkinsonism-spasticity syndrome
XPDS
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
gene_symbol: FBXO7
disease_id: OMIM:260300
disease_name: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: SLC39A14
disease_id: ORPHA:521406
disease_name: Dystonia-parkinsonism-hypermanganesemia syndrome
gene_symbol: ARL6IP1
disease_id: OMIM:615685
disease_name: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
gene_symbol: ARL6IP1
disease_id: ORPHA:401780
disease_name: Autosomal recessive spastic paraplegia type 61
SPG61
gene_symbol: RETREG1
disease_id: OMIM:613115
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated genes and diseases:
gene_symbol: MAGED2
disease_id: OMIM:300971
disease_name: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: SLC34A3
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A1
disease_id: OMIM:616963
disease_name: HYPERCALCEMIA, INFANTILE, 2
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: FGF23
disease_id: OMIM:617993
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
gene_symbol: ENPP1
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ENPP1
disease_id: OMIM:613312
disease_name: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: CYP24A1
disease_id: OMIM:143880
disease_name: HYPERCALCEMIA, INFANTILE, 1
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
Phenotype: Cortical nephrocalcinosis (HP:0012409)
Associated genes and diseases:
gene_symbol: ENPP1
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated genes and diseases:
gene_symbol: FH
disease_id: ORPHA:24
disease_name: Fumaric aciduria
Fumarase deficiency
gene_symbol: PIGB
disease_id: OMIM:618580
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
gene_symbol: GLUD1
disease_id: ORPHA:35878
disease_name: Hyperinsulinism-hyperammonemia syndrome
HI/HA syndrome
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: TBC1D24
disease_id: OMIM:220500
disease_name: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: DLD
disease_id: ORPHA:2394
disease_name: Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
gene_symbol: COX16
disease_id: OMIM:619355
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
gene_symbol: SDHB
disease_id: OMIM:619224
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: SLC25A1
disease_id: OMIM:615182
disease_name: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
gene_symbol: SLC13A3
disease_id: OMIM:618384
disease_name: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
gene_symbol: TPK1
disease_id: OMIM:614458
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
gene_symbol: PCK1
disease_id: ORPHA:2880
disease_name: Phosphoenolpyruvate carboxykinase deficiency
PEPCK deficiency
gene_symbol: PCK2
disease_id: ORPHA:2880
disease_name: Phosphoenolpyruvate carboxykinase deficiency
PEPCK deficiency
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
Phenotype: Decreased urine alpha-ketoglutarate concentration (HP:0012403)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
Phenotype: Calcinosis cutis (HP:0025520)
Associated genes and diseases:
gene_symbol: ENPP1
disease_id: OMIM:615522
disease_name: COLE DISEASE
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: SAMD9
disease_id: OMIM:610455
disease_name: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
gene_symbol: LBR
disease_id: OMIM:613471
disease_name: REYNOLDS SYNDROME
Phenotype: Abnormal morphology of the chordae tendinae of the mitral valve (HP:0025523)
Associated genes and diseases:
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: TMEM94
disease_id: OMIM:618316
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
gene_symbol: FLNA
disease_id: OMIM:314400
disease_name: CARDIAC VALVULAR DYSPLASIA, X-LINKED
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
Phenotype: Palmoplantar scaling skin (HP:0025524)
Associated genes and diseases:
gene_symbol: TGM1
disease_id: ORPHA:281127
disease_name: Acral self-healing collodion baby
Acral SHCB
gene_symbol: TGM1
disease_id: ORPHA:100976
disease_name: Bathing suit ichthyosis
BSI
gene_symbol: DSP
disease_id: OMIM:605676
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
gene_symbol: KRT1
disease_id: ORPHA:530838
disease_name: KRT1-related diffuse nonepidermolytic keratoderma
KRT1-related diffuse NEPPK
Phenotype: Scaling skin on fingertip (HP:0025525)
Associated genes and diseases:
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
Phenotype: Psoriasiform lesion (HP:0025526)
Associated genes and diseases:
gene_symbol: IL7R
disease_id: ORPHA:169154
disease_name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to IL-7Ralpha deficiency
gene_symbol: LDHA
disease_id: ORPHA:284426
disease_name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
gene_symbol: RIGI
disease_id: OMIM:616298
disease_name: SINGLETON-MERTEN SYNDROME 2
Phenotype: Annular cutaneous lesion (HP:0025528)
Associated genes and diseases:
gene_symbol: LDHA
disease_id: ORPHA:284426
disease_name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
Phenotype: Premature pubarche (HP:0012411)
Associated genes and diseases:
gene_symbol: HSD3B2
disease_id: OMIM:201810
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MKRN3
disease_id: OMIM:615346
disease_name: PRECOCIOUS PUBERTY, CENTRAL, 2
gene_symbol: HSD11B1
disease_id: OMIM:614662
disease_name: CORTISONE REDUCTASE DEFICIENCY 2
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: MEN1
disease_id: ORPHA:99725
disease_name: Pituitary gigantism
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
gene_symbol: AIP
disease_id: ORPHA:99725
disease_name: Pituitary gigantism
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
gene_symbol: PAPSS2
disease_id: OMIM:612847
disease_name: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
Phenotype: Hypercapnia (HP:0012416)
Associated genes and diseases:
gene_symbol: CACNA1S
disease_id: OMIM:601887
disease_name: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
gene_symbol: CACNA1S
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
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: NDUFS8
disease_id: OMIM:618222
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: RYR1
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
Phenotype: Hypocapnia (HP:0012417)
Associated genes and diseases:
gene_symbol: RYR1
disease_id: ORPHA:466650
disease_name: Exercise-induced malignant hyperthermia
Exertional heat stroke
Phenotype: Premature adrenarche (HP:0012412)
Associated genes and diseases:
gene_symbol: GRB10
disease_id: ORPHA:96182
disease_name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
UPD(7)mat
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: USP7
disease_id: OMIM:616863
disease_name: HAO-FOUNTAIN SYNDROME
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: HSD3B2
disease_id: ORPHA:90791
disease_name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
Phenotype: Notched primary central incisor (HP:0012413)
Associated genes and diseases:
gene_symbol: DPH2
disease_id: OMIM:620062
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
Phenotype: Increased circulating surfactant protein level (HP:0032094)
Associated genes and diseases:
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
Phenotype: Abnormal manganese concentration (HP:0032096)
Associated genes and diseases:
gene_symbol: SLC30A10
disease_id: OMIM:613280
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 1
gene_symbol: SLC39A14
disease_id: ORPHA:521406
disease_name: Dystonia-parkinsonism-hypermanganesemia syndrome
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: SLC39A8
disease_id: ORPHA:468699
disease_name: SLC39A8-CDG
CDG syndrome type IIn
CDG-IIn
CDG2N
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency
Phenotype: Hypermanganesemia (HP:0032097)
Associated genes and diseases:
gene_symbol: SLC30A10
disease_id: OMIM:613280
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 1
gene_symbol: SLC39A14
disease_id: ORPHA:521406
disease_name: Dystonia-parkinsonism-hypermanganesemia syndrome
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
Phenotype: Hypomanganesemia (HP:0032098)
Associated genes and diseases:
gene_symbol: SLC39A8
disease_id: ORPHA:468699
disease_name: SLC39A8-CDG
CDG syndrome type IIn
CDG-IIn
CDG2N
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency
Phenotype: Left ventricular outflow tract obstruction (HP:0032092)
Associated genes and diseases:
gene_symbol: GAA
disease_id: ORPHA:308552
disease_name: Glycogen storage disease due to acid maltase deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
gene_symbol: FHOD3
disease_id: OMIM:619402
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28
gene_symbol: MYH6
disease_id: OMIM:613251
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
gene_symbol: TAB2
disease_id: OMIM:614980
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
gene_symbol: VCL
disease_id: OMIM:613255
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
gene_symbol: NR2F2
disease_id: OMIM:615779
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
gene_symbol: KLHL24
disease_id: OMIM:620236
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES
gene_symbol: GDF1
disease_id: OMIM:613854
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
Phenotype: Xanthomas of the palmar creases (HP:0025530)
Associated genes and diseases:
gene_symbol: APOE
disease_id: ORPHA:412
disease_name: Dysbetalipoproteinemia
Broad-beta disease
Familial dyslipidemia type 3
HLP type 3
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Remnant hyperlipoproteinemia