Phenotype: Death in infancy (HP:0001522)
Associated genes and diseases:
gene_symbol: PLVAP
disease_id: OMIM:618183
disease_name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: ALG14
disease_id: OMIM:619036
disease_name: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY
gene_symbol: PPCS
disease_id: OMIM:618189
disease_name: CARDIOMYOPATHY, DILATED, 2C
gene_symbol: IKBKB
disease_id: OMIM:615592
disease_name: IMMUNODEFICIENCY 15B
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: JAM3
disease_id: OMIM:613730
disease_name: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
gene_symbol: DNM1L
disease_id: OMIM:614388
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: ACTA1
disease_id: OMIM:620265
disease_name: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE
gene_symbol: ACTA1
disease_id: OMIM:620278
disease_name: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT
gene_symbol: FARS2
disease_id: OMIM:614946
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
gene_symbol: ACOX1
disease_id: ORPHA:2971
disease_name: Peroxisomal acyl-CoA oxidase deficiency
Pseudo-NALD
Pseudo-neonatal adrenoleukodystrophy
Pseudoadrenoleukodystrophy
gene_symbol: GLDC
disease_id: OMIM:605899
disease_name: GLYCINE ENCEPHALOPATHY
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MLH1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: TGFBR2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: TMEM70
disease_id: ORPHA:1194
disease_name: TMEM70-related mitochondrial encephalo-cardio-myopathy
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: MRPS34
disease_id: OMIM:617664
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: COX10
disease_id: OMIM:619046
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: LIPT2
disease_id: OMIM:617668
disease_name: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
gene_symbol: LTC4S
disease_id: OMIM:614037
disease_name: LEUKOTRIENE C4 SYNTHASE DEFICIENCY
gene_symbol: DNM2
disease_id: OMIM:615368
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
gene_symbol: ATP1A2
disease_id: OMIM:619605
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: PQBP1
disease_id: ORPHA:93946
disease_name: Hamel cerebro-palato-cardiac syndrome
gene_symbol: RET
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: ASCL1
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: PHOX2B
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: CRYAB
disease_id: OMIM:613869
disease_name: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
gene_symbol: COX11
disease_id: OMIM:620275
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23
gene_symbol: LIPA
disease_id: OMIM:620151
disease_name: WOLMAN DISEASE
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
gene_symbol: TSPYL1
disease_id: ORPHA:168593
disease_name: Sudden infant death-dysgenesis of the testes syndrome
SIDDT
gene_symbol: TRMU
disease_id: OMIM:613070
disease_name: LIVER FAILURE, INFANTILE, TRANSIENT
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: CDK5
disease_id: OMIM:616342
disease_name: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
gene_symbol: SIK1
disease_id: OMIM:616341
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30
gene_symbol: CNTN1
disease_id: OMIM:612540
disease_name: MYOPATHY, CONGENITAL, COMPTON-NORTH
gene_symbol: ORAI1
disease_id: OMIM:612782
disease_name: IMMUNODEFICIENCY 9
gene_symbol: STAT2
disease_id: OMIM:618886
disease_name: PSEUDO-TORCH SYNDROME 3
gene_symbol: DPH1
disease_id: OMIM:616901
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
gene_symbol: TNFRSF11A
disease_id: OMIM:612301
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
gene_symbol: SCYL2
disease_id: OMIM:618766
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: ATRX
disease_id: ORPHA:847
disease_name: X-linked alpha-thalassemia-intellectual disability syndrome
ATR-X syndrome
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: SUCLG1
disease_id: OMIM:245400
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: COX5A
disease_id: OMIM:619064
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: ANTXR2
disease_id: ORPHA:2028
disease_name: Juvenile hyaline fibromatosis
Murray-Puretic-Drescher syndrome
Puretic syndrome
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: MYL1
disease_id: OMIM:618414
disease_name: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
gene_symbol: VIPAS39
disease_id: OMIM:613404
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
gene_symbol: ALG8
disease_id: OMIM:608104
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: FAM111A
disease_id: OMIM:602361
disease_name: GRACILE BONE DYSPLASIA
gene_symbol: ABCA12
disease_id: OMIM:242500
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: GBA1
disease_id: ORPHA:85212
disease_name: Fetal Gaucher disease
Perinatal lethal Gaucher disease
gene_symbol: GBA1
disease_id: OMIM:230900
disease_name: GAUCHER DISEASE, TYPE II
gene_symbol: MRPL44
disease_id: OMIM:615395
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
gene_symbol: PEX6
disease_id: OMIM:614862
disease_name: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
gene_symbol: PEX6
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: AIMP1
disease_id: OMIM:260600
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 3
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX2
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: HDAC6
disease_id: ORPHA:163966
disease_name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
gene_symbol: NUP214
disease_id: OMIM:618426
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
gene_symbol: PROKR2
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: LHX4
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: WDR11
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: ROBO1
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: HESX1
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: CDON
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: GPR161
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: ETHE1
disease_id: OMIM:602473
disease_name: ENCEPHALOPATHY, ETHYLMALONIC
gene_symbol: PIGY
disease_id: OMIM:616809
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
gene_symbol: DPH5
disease_id: OMIM:620070
disease_name: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
gene_symbol: SNRPB
disease_id: ORPHA:1393
disease_name: Cerebrocostomandibular syndrome
gene_symbol: DPM2
disease_id: OMIM:615042
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
gene_symbol: TRIP11
disease_id: OMIM:184260
disease_name: ODONTOCHONDRODYSPLASIA 1
gene_symbol: TRIP11
disease_id: ORPHA:166272
disease_name: Odontochondrodysplasia
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
ODCD
gene_symbol: EMG1
disease_id: ORPHA:1270
disease_name: Bowen-Conradi syndrome
Bowen syndrome, Hutterite type
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: PEX26
disease_id: OMIM:614872
disease_name: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
gene_symbol: PEX26
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: ACAD9
disease_id: OMIM:611126
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: PEX16
disease_id: OMIM:614876
disease_name: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
gene_symbol: PEX16
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: LMOD1
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: MYH11
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: ACTG2
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: MYLK
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: LMNA
disease_id: ORPHA:157973
disease_name: Congenital muscular dystrophy due to LMNA mutation
L-CMD
LMNA-related congenital muscular dystrophy
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: CRPPA
disease_id: OMIM:614643
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
gene_symbol: PEX3
disease_id: OMIM:614882
disease_name: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
gene_symbol: PEX3
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: TMEM260
disease_id: OMIM:617478
disease_name: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: LAMB3
disease_id: OMIM:226700
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
gene_symbol: LAMC2
disease_id: OMIM:226700
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
gene_symbol: LAMC2
disease_id: OMIM:619786
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE
gene_symbol: LAMA3
disease_id: OMIM:226700
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
gene_symbol: LAMA3
disease_id: OMIM:619784
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: AARS2
disease_id: OMIM:614096
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
gene_symbol: PPIL1
disease_id: OMIM:619301
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 14
gene_symbol: C2orf69
disease_id: OMIM:619423
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53
gene_symbol: CDC40
disease_id: OMIM:619302
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 15
gene_symbol: MYL2
disease_id: OMIM:619424
disease_name: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
gene_symbol: SLC25A46
disease_id: OMIM:619303
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E
gene_symbol: ECHS1
disease_id: OMIM:616277
disease_name: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: HTRA2
disease_id: OMIM:617248
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
gene_symbol: EPG5
disease_id: ORPHA:1493
disease_name: Vici syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
gene_symbol: PEX19
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX11B
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX5
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX1
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX12
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX13
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX14
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX10
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: ALG1
disease_id: OMIM:608540
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
gene_symbol: PIGB
disease_id: OMIM:618580
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: FGG
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGA
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGB
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: KIF20A
disease_id: OMIM:619433
disease_name: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6
gene_symbol: ITGB4
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: ITGA6
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: PLEC
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: ADCY6
disease_id: OMIM:616287
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
gene_symbol: FANCB
disease_id: OMIM:300514
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP B
gene_symbol: LMOD3
disease_id: OMIM:616165
disease_name: NEMALINE MYOPATHY 10
gene_symbol: TPI1
disease_id: OMIM:615512
disease_name: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: NDUFV2
disease_id: OMIM:618229
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: TSFM
disease_id: OMIM:610505
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
gene_symbol: PTF1A
disease_id: OMIM:609069
disease_name: PANCREATIC AND CEREBELLAR AGENESIS
gene_symbol: MRPS22
disease_id: OMIM:611719
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
gene_symbol: TSEN54
disease_id: OMIM:225753
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 4
gene_symbol: NDUFA2
disease_id: OMIM:618235
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: STX3
disease_id: OMIM:619446
disease_name: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
gene_symbol: TRMT10C
disease_id: OMIM:616974
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
gene_symbol: EFL1
disease_id: OMIM:617941
disease_name: SHWACHMAN-DIAMOND SYNDROME 2
gene_symbol: PSAP
disease_id: ORPHA:139406
disease_name: Encephalopathy due to prosaposin deficiency
Combined prosaposin deficiency
gene_symbol: PSAP
disease_id: OMIM:611721
disease_name: COMBINED SAPOSIN DEFICIENCY
gene_symbol: PSAP
disease_id: OMIM:611722
disease_name: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
gene_symbol: MESP2
disease_id: OMIM:277300
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
gene_symbol: DLL3
disease_id: OMIM:277300
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: ARX
disease_id: ORPHA:452
disease_name: X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
gene_symbol: REV3L
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: PLXND1
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: NEB
disease_id: OMIM:619334
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: NDUFAF3
disease_id: OMIM:618240
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: TFAM
disease_id: OMIM:617156
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
gene_symbol: ERCC2
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: ERCC1
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: ERCC6
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: ERCC5
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: AIMP2
disease_id: OMIM:618006
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 17
gene_symbol: TSEN2
disease_id: OMIM:612389
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
gene_symbol: GRM7
disease_id: OMIM:618922
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: DOLK
disease_id: OMIM:610768
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
gene_symbol: SMOC1
disease_id: ORPHA:1106
disease_name: Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
gene_symbol: UBR1
disease_id: ORPHA:2315
disease_name: Johanson-Blizzard syndrome
JBS
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
gene_symbol: DCX
disease_id: OMIM:300067
disease_name: LISSENCEPHALY, X-LINKED, 1
gene_symbol: SCN4A
disease_id: ORPHA:682
disease_name: Hyperkalemic periodic paralysis
Adynamia episodica hereditaria
Familial hyperPP
Familial hyperkalemic periodic paralysis
Gamstorp disease
Gamstorp episodic adynamy
HYPP
HyperKPP
HyperPP
Hyperkalemic PP
Primary hyperPP
Primary hyperkalemic periodic paralysis
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
gene_symbol: PRPS1
disease_id: OMIM:301835
disease_name: ARTS SYNDROME
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: NSF
disease_id: OMIM:619340
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: NR1H4
disease_id: OMIM:617049
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: SLC25A19
disease_id: ORPHA:99742
disease_name: Amish lethal microcephaly
gene_symbol: GDF5
disease_id: OMIM:200700
disease_name: CHONDRODYSPLASIA, GREBE TYPE
gene_symbol: GDF5
disease_id: ORPHA:2098
disease_name: Acromesomelic dysplasia, Grebe type
Chondrodysplasia, Grebe type
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: WT1
disease_id: OMIM:608978
disease_name: MEACHAM SYNDROME
gene_symbol: COASY
disease_id: OMIM:618266
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
gene_symbol: COX16
disease_id: OMIM:619355
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: KRT5
disease_id: OMIM:619599
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: FXR1
disease_id: OMIM:618822
disease_name: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES
gene_symbol: ITPA
disease_id: OMIM:616647
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
gene_symbol: SMO
disease_id: OMIM:241800
disease_name: PALLISTER-HALL-LIKE SYNDROME
gene_symbol: BMPR1B
disease_id: ORPHA:2098
disease_name: Acromesomelic dysplasia, Grebe type
Chondrodysplasia, Grebe type
gene_symbol: IDUA
disease_id: ORPHA:93473
disease_name: Hurler syndrome
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: SLC25A4
disease_id: OMIM:617184
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
gene_symbol: ELAC2
disease_id: OMIM:615440
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
gene_symbol: QRSL1
disease_id: OMIM:618835
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40
gene_symbol: TUFM
disease_id: OMIM:610678
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
gene_symbol: MYO5B
disease_id: OMIM:251850
disease_name: DIARRHEA 2, WITH MICROVILLUS ATROPHY
gene_symbol: GATC
disease_id: OMIM:618839
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: JPH2
disease_id: OMIM:619492
disease_name: CARDIOMYOPATHY, DILATED, 2E
gene_symbol: RPL3L
disease_id: OMIM:619371
disease_name: CARDIOMYOPATHY, DILATED, 2D
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
gene_symbol: RAD51C
disease_id: OMIM:613390
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP O
gene_symbol: VPS35L
disease_id: OMIM:619135
disease_name: RITSCHER-SCHINZEL SYNDROME 3
gene_symbol: VPS35L
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: POMT2
disease_id: OMIM:613150
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
gene_symbol: OAS1
disease_id: OMIM:618042
disease_name: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: RMND1
disease_id: OMIM:614922
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
gene_symbol: NADSYN1
disease_id: OMIM:618845
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3
gene_symbol: CD96
disease_id: ORPHA:1308
disease_name: C syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: CLCF1
disease_id: ORPHA:1545
disease_name: Crisponi syndrome
gene_symbol: CRLF1
disease_id: ORPHA:1545
disease_name: Crisponi syndrome
gene_symbol: WASHC5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: NFS1
disease_id: OMIM:619386
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52
gene_symbol: NRAS
disease_id: OMIM:249400
disease_name: MELANOSIS, NEUROCUTANEOUS
gene_symbol: BRAT1
disease_id: OMIM:614498
disease_name: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
gene_symbol: KLHL40
disease_id: OMIM:615348
disease_name: NEMALINE MYOPATHY 8
gene_symbol: DYNLT2B
disease_id: OMIM:617405
disease_name: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY