TaoMedAI/RareMedData huggingface dataset:
Gene: PSMB8
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Panniculitis (HP:0012490)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Macrotia (HP:0000400)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Prominent nose (HP:0000448)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Proptosis (HP:0000520)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Hallux valgus (HP:0001822)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB9
Phenotype: Increased circulating troponin T concentration (HP:0410174)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Seizure (HP:0001250)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Decreased gamma-delta T cell proportion (HP:0500271)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Cirrhosis (HP:0001394)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Elevated circulating soluble CD25 concentration (HP:0033833)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased circulating NT-proBNP concentration (HP:0031185)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Portal hypertension (HP:0001409)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased circulating interleukin 10 concentration (HP:0033199)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Pneumonia (HP:0002090)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Elevated circulating D-dimer concentration (HP:0033106)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased circulating interleukin 18 concentration (HP:0034447)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Elevated circulating tumor necrosis factor alpha concentration (HP:6000239)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Infantile onset (HP:0003593)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased circulating interleukin 1beta concentration (HP:6000374)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Myositis (HP:0100614)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Elevated circulating myoglobin concentration (HP:0033438)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Fever (HP:0001945)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Skin rash (HP:0000988)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Cardiogenic shock (HP:0030149)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB9
Phenotype: Pancytopenia (HP:0001876)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Gene: PSMB10
Phenotype: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Colitis (HP:0002583)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Decreased naive CD4-positive T cell proportion (HP:0410378)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Hypospadias (HP:0000047)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Recurrent infections (HP:0002719)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Immunodeficiency (HP:0002721)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Diarrhea (HP:0002014)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Increased CD4:CD8 ratio (HP:0033221)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Congenital onset (HP:0003577)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Acute phase response (HP:0033331)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Erythroderma (HP:0001019)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Decreased circulating total IgG concentration (HP:0032132)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Neonatal onset (HP:0003623)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Fever (HP:0001945)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Skin rash (HP:0000988)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Alopecia (HP:0001596)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Failure to thrive (HP:0001508)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Pointed chin (HP:0000307)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Protruding ear (HP:0000411)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Gene: PSMB10
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease:  (OMIM:620807)
Gene: PSMB10
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: PSMB10
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease:  (OMIM:620807)
Gene: PSMC1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Inability to walk (HP:0002540)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Micropenis (HP:0000054)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Absent speech (HP:0001344)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Chorea (HP:0002072)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Long nasal bridge (HP:0033142)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Tube feeding (HP:0033454)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Gene: PSMC3
Phenotype: Sunken cheeks (HP:0009938)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Round ear (HP:0100830)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Subcutaneous calcification (HP:0007618)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Synophrys (HP:0000664)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Malar flattening (HP:0000272)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Strabismus (HP:0000486)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMC3
Phenotype: Developmental cataract (HP:0000519)
Associated disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Gene: PSMD12
Phenotype: Progressive conductive hearing impairment (HP:0008607)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Microtia (HP:0008551)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Motor delay (HP:0001270)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Seizure (HP:0001250)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Seizure (HP:0001250)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Hypotonia (HP:0001252)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Chordee (HP:0000041)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Micropenis (HP:0000054)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Hypospadias (HP:0000047)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)