TaoMedAI/RareMedData huggingface dataset:
Gene: PRF1
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Anemia (HP:0001903)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Anemia (HP:0001903)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: APLASTIC ANEMIA (OMIM:609135)
Gene: PRF1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Irritability (HP:0000737)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Purpura (HP:0000979)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Skin rash (HP:0000988)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Skin rash (HP:0000988)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Jaundice (HP:0000952)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Edema (HP:0000969)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Petechiae (HP:0000967)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Abnormality of tumor necrosis factor secretion (HP:0011118)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Abnormal circulating cytokine concentration (HP:0011112)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRIM1
Phenotype: Tapered finger (HP:0001182)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Microtia (HP:0008551)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Acute respiratory distress syndrome (HP:0033677)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Small hand (HP:0200055)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Anemia (HP:0001903)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Microdontia (HP:0000691)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Cough (HP:0012735)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Wheezing (HP:0030828)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Sparse hair (HP:0008070)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Macronodular cirrhosis (HP:0006577)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Broad forehead (HP:0000337)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Severe B lymphocytopenia (HP:0005365)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Cataract (HP:0000518)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRIM1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Gene: PRKACA
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 (OMIM:615830)
Gene: PRKACA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Long thorax (HP:0100818)
Associated disease: CARDIOACROFACIAL DYSPLASIA 1 (OMIM:619142)
Gene: PRKACA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 (OMIM:615830)
Gene: PRKACA
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Hydroureter (HP:0000072)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Epispadias (HP:0000039)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Hypospadias (HP:0000047)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 (OMIM:615830)
Gene: PRKACA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOACROFACIAL DYSPLASIA 1 (OMIM:619142)
Gene: PRKACA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: CARDIOACROFACIAL DYSPLASIA 1 (OMIM:619142)
Gene: PRKACA
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Moon facies (HP:0500011)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 (OMIM:615830)
Gene: PRKACA
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CARDIOACROFACIAL DYSPLASIA 1 (OMIM:619142)
Gene: PRKACA
Phenotype: Emphysema (HP:0002097)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKACA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKACA
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: PRKACA
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: CARDIOACROFACIAL DYSPLASIA 1 (OMIM:619142)
Gene: PRKACA
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 (OMIM:615830)
Gene: PRKACA
Phenotype: Overhanging nasal tip (HP:0011833)
Associated disease: CARDIOACROFACIAL DYSPLASIA 1 (OMIM:619142)