TaoMedAI/RareMedData huggingface dataset:
Gene: MCM2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
Gene: MCM4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Adrenocorticotropic hormone excess (HP:0011749)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Caesarean section (HP:0011410)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Chromosome breakage (HP:0040012)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Microcephaly (HP:0000252)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Gene: MCM5
Phenotype: Microtia (HP:0008551)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Micrognathia (HP:0000347)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Nephroptosis (HP:0011126)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Unilateral renal hypoplasia (HP:0012583)
Associated disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Gene: MCM5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MCM5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCM6
Phenotype: Decreased small intestinal mucosa lactase level (HP:0025130)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM6
Phenotype: Flatulence (HP:0033589)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM6
Phenotype: Abdominal pain (HP:0002027)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM6
Phenotype: Diarrhea (HP:0002014)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM6
Phenotype: Lactose intolerance (HP:0004789)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM6
Phenotype: Childhood onset (HP:0011463)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM6
Phenotype: Young adult onset (HP:0011462)
Associated disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Gene: MCM7
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCM7
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CD46
Phenotype: Generalized edema (HP:0007430)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Proteinuria (HP:0000093)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Hypotension (HP:0002615)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Epigastric pain (HP:0410019)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Nausea (HP:0002018)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Vomiting (HP:0002013)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Anuria (HP:0100519)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Back pain (HP:0003418)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Headache (HP:0002315)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Eclampsia (HP:0100601)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Increased body weight (HP:0004324)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)