TaoMedAI/RareMedData huggingface dataset:
Phenotype: Reduced granulocyte surface marker level (HP:0031553)
Associated genes and diseases:
gene_symbol: PIGM
disease_id: OMIM:610293
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
Phenotype: Reduced granulocyte CD59 level (HP:0031555)
Associated genes and diseases:
gene_symbol: PIGM
disease_id: OMIM:610293
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
Phenotype: Reduced hepatic fructose-1,6-phosphate aldolase activity (HP:0034830)
Associated genes and diseases:
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
Phenotype: Cleavage at junction of stratum corneum and stratum granulosum (HP:0034838)
Associated genes and diseases:
gene_symbol: TGM5
disease_id: OMIM:609796
disease_name: PEELING SKIN SYNDROME 2
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
Phenotype: Lymphoid hyperplasia (HP:0034839)
Associated genes and diseases:
gene_symbol: CARD11
disease_id: OMIM:616452
disease_name: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
Phenotype: Abdominal situs ambiguus (HP:0031565)
Associated genes and diseases:
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: SMAD2
disease_id: OMIM:619657
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: ODAD4
disease_id: OMIM:617092
disease_name: CILIARY DYSKINESIA, PRIMARY, 35
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: GDF1
disease_id: OMIM:208530
disease_name: RIGHT ATRIAL ISOMERISM
gene_symbol: DAW1
disease_id: OMIM:620570
disease_name: CILIARY DYSKINESIA, PRIMARY, 52
Phenotype: Abnormal pulmonary valve cusp morphology (HP:0031566)
Associated genes and diseases:
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: ATRX
disease_id: ORPHA:100075
disease_name: Neuroendocrine tumor of stomach
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
Phenotype: Thickened aortic valve cusp (HP:0031568)
Associated genes and diseases:
gene_symbol: ARSK
disease_id: OMIM:619698
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE X
Phenotype: Paramedian facial cleft (HP:0031571)
Associated genes and diseases:
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
Phenotype: Orbital cleft (HP:0031574)
Associated genes and diseases:
gene_symbol: SPECC1L
disease_id: OMIM:600251
disease_name: FACIAL CLEFTING, OBLIQUE, 1
Phenotype: Tessier number 4 facial cleft (HP:0031576)
Associated genes and diseases:
gene_symbol: SPECC1L
disease_id: OMIM:600251
disease_name: FACIAL CLEFTING, OBLIQUE, 1
Phenotype: Abnormal leukocyte enzyme concentration or activity (HP:0034858)
Associated genes and diseases:
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
gene_symbol: SGSH
disease_id: OMIM:252900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIA
gene_symbol: MPO
disease_id: OMIM:254600
disease_name: MYELOPEROXIDASE DEFICIENCY
Phenotype: Reduced tissue beta-glucuronidase activity (HP:0034859)
Associated genes and diseases:
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
Phenotype: Reduced beta/alpha synthesis ratio (HP:0011906)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:90039
disease_name: Hemoglobin D disease
gene_symbol: HBB
disease_id: OMIM:613985
disease_name: BETA-THALASSEMIA
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:90039
disease_name: Hemoglobin D disease
gene_symbol: HBB
disease_id: OMIM:604131
disease_name: ALPHA-THALASSEMIA
gene_symbol: HBA2
disease_id: OMIM:604131
disease_name: ALPHA-THALASSEMIA
gene_symbol: HBA2
disease_id: OMIM:613978
disease_name: HEMOGLOBIN H DISEASE
gene_symbol: HBA1
disease_id: OMIM:604131
disease_name: ALPHA-THALASSEMIA
gene_symbol: HBA1
disease_id: OMIM:613978
disease_name: HEMOGLOBIN H DISEASE
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: ATRX
disease_id: OMIM:300448
disease_name: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME
Phenotype: Unilateral radial aplasia (HP:0011908)
Associated genes and diseases:
gene_symbol: RPL26
disease_id: OMIM:614900
disease_name: DIAMOND-BLACKFAN ANEMIA 11
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Phenotype: Flattened metacarpal heads (HP:0011909)
Associated genes and diseases:
gene_symbol: PRG4
disease_id: OMIM:208250
disease_name: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
Phenotype: HbH hemoglobin (HP:0011903)
Associated genes and diseases:
gene_symbol: PRPS1
disease_id: ORPHA:423479
disease_name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
gene_symbol: HBA1
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA1
disease_id: OMIM:613978
disease_name: HEMOGLOBIN H DISEASE
gene_symbol: HBA2
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA2
disease_id: OMIM:613978
disease_name: HEMOGLOBIN H DISEASE
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: ATRX
disease_id: ORPHA:231401
disease_name: Alpha-thalassemia-myelodysplastic syndrome
ATMDS
Acquired HbH disease
Acquired hemoglobin H disease
gene_symbol: ATRX
disease_id: OMIM:300448
disease_name: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME
Phenotype: Reduced hemoglobin A (HP:0011905)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:90039
disease_name: Hemoglobin D disease
gene_symbol: HBB
disease_id: ORPHA:2133
disease_name: Hemoglobin E disease
gene_symbol: HBB
disease_id: ORPHA:231226
disease_name: Dominant beta-thalassemia
Inclusion body beta-thalassemia
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
Phenotype: Tessier number 13 facial cleft (HP:0031585)
Associated genes and diseases:
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
Phenotype: Reduced leukocyte arylsulfatase B activity (HP:0034861)
Associated genes and diseases:
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
Phenotype: Reduced leukocyte arylsulfatase A activity (HP:0034863)
Associated genes and diseases:
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
Phenotype: Decreased alpha-galactosidase A activity (HP:0034864)
Associated genes and diseases:
gene_symbol: GLA
disease_id: OMIM:301500
disease_name: FABRY DISEASE
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
Phenotype: Short 5th toe (HP:0011917)
Associated genes and diseases:
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: COX4I1
disease_id: OMIM:619060
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: RBPJ
disease_id: OMIM:614814
disease_name: ADAMS-OLIVER SYNDROME 3
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
Phenotype: Clinodactyly of the 4th toe (HP:0011918)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: RAB3GAP2
disease_id: OMIM:614225
disease_name: WARBURG MICRO SYNDROME 2
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
Phenotype: Pleural empyema (HP:0011919)
Associated genes and diseases:
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Phenotype: Lumbar hypertrichosis (HP:0011913)
Associated genes and diseases:
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
Phenotype: Thoracic hypertrichosis (HP:0011914)
Associated genes and diseases:
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
Phenotype: Toe extensor amyotrophy (HP:0011916)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: ORPHA:98856
disease_name: Charcot-Marie-Tooth disease type 2B1
AR-CMT2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive axonal CMT4C1
gene_symbol: MYH7
disease_id: ORPHA:59135
disease_name: Laing distal myopathy
Distal myopathy type 1
MPD1
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
Phenotype: Shortening of all phalanges of fingers (HP:0011910)
Associated genes and diseases:
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: TRPS1
disease_id: ORPHA:77258
disease_name: Trichorhinophalangeal syndrome type 1
Phenotype: Abnormality of the glenoid fossa (HP:0011912)
Associated genes and diseases:
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: SCARF2
disease_id: ORPHA:2460
disease_name: Van den Ende-Gupta syndrome
Marden-Walker-like syndrome
VDEGS
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: LYSET
disease_id: OMIM:619345
disease_name: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
Phenotype: Asthenopia (HP:0031590)
Associated genes and diseases:
gene_symbol: CFAP45
disease_id: OMIM:619608
disease_name: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY
Phenotype: Abnormal PR interval (HP:0031593)
Associated genes and diseases:
gene_symbol: TRPM4
disease_id: OMIM:604559
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
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: MT-CYB
disease_id: ORPHA:137675
disease_name: Histiocytoid cardiomyopathy
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
gene_symbol: PRKAG2
disease_id: OMIM:194200
disease_name: WOLFF-PARKINSON-WHITE SYNDROME
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: PRKAG2
disease_id: OMIM:600858
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: DOHH
disease_id: OMIM:620066
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT
gene_symbol: SCN2B
disease_id: OMIM:615378
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 14
gene_symbol: SCN5A
disease_id: OMIM:113900
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
gene_symbol: GNB5
disease_id: ORPHA:542306
disease_name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
gene_symbol: GPD1L
disease_id: OMIM:611777
disease_name: BRUGADA SYNDROME 2
gene_symbol: NKX2-5
disease_id: OMIM:108900
disease_name: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: DSG2
disease_id: OMIM:610193
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: KCNA5
disease_id: OMIM:612240
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 7
gene_symbol: GNB2
disease_id: OMIM:619464
disease_name: SICK SINUS SYNDROME 4
Phenotype: Abnormal P wave (HP:0031595)
Associated genes and diseases:
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: EMD
disease_id: OMIM:310300
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
gene_symbol: GJA5
disease_id: OMIM:614049
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 11
gene_symbol: SCN3B
disease_id: OMIM:613120
disease_name: BRUGADA SYNDROME 7
Phenotype: Hypersegmentation of proximal phalanx of third finger (HP:0011929)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated genes and diseases:
gene_symbol: MRPS22
disease_id: OMIM:611719
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: MRPS14
disease_id: OMIM:618378
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
gene_symbol: ATP5F1D
disease_id: OMIM:618120
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: ATP5F1E
disease_id: OMIM:614053
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: TK2
disease_id: OMIM:609560
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
gene_symbol: GFM1
disease_id: OMIM:609060
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
gene_symbol: MRPS16
disease_id: OMIM:610498
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
gene_symbol: ATP5F1A
disease_id: OMIM:615228
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: TIMM50
disease_id: ORPHA:505216
disease_name: 3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
MGA9
gene_symbol: MTRFR
disease_id: OMIM:613559
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
gene_symbol: ATPAF2
disease_id: OMIM:604273
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
Phenotype: Prostatic calculus (HP:0034882)
Associated genes and diseases:
gene_symbol: HGD
disease_id: ORPHA:56
disease_name: Alkaptonuria
Hereditary ochronosis
Homogentisic acid oxidase deficiency
Phenotype: Abnormal urinary uromodulin level (HP:0034885)
Associated genes and diseases:
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
Phenotype: Decreased urinary uromodulin level (HP:0034886)
Associated genes and diseases:
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
Phenotype: Decreased urinary urate (HP:0011935)
Associated genes and diseases:
gene_symbol: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
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: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
Phenotype: Decreased plasma total carnitine (HP:0011936)
Associated genes and diseases:
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: CPT2
disease_id: ORPHA:228305
disease_name: Carnitine palmitoyl transferase II deficiency, severe infantile form
CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
gene_symbol: CPT2
disease_id: ORPHA:228308
disease_name: Carnitine palmitoyl transferase II deficiency, neonatal form
CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
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: ACADM
disease_id: ORPHA:42
disease_name: Medium chain acyl-CoA dehydrogenase deficiency
ACADM deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
MCAD deficiency
MCADD
Medium chain acyl-coenzyme A dehydrogenase deficiency
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated genes and diseases:
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:174700
disease_name: POLYDACTYLY, PREAXIAL IV
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: CDH3
disease_id: OMIM:225280
disease_name: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: GJA1
disease_id: OMIM:186100
disease_name: SYNDACTYLY, TYPE III
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: HOXD13
disease_id: OMIM:186000
disease_name: SYNPOLYDACTYLY 1
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
gene_symbol: TMEM53
disease_id: OMIM:619727
disease_name: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE
gene_symbol: CPLANE1
disease_id: OMIM:614615
disease_name: JOUBERT SYNDROME 17