TaoMedAI/RareMedData huggingface dataset:
Gene: UGP2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Poor suck (HP:0002033)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Tetraparesis (HP:0002273)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Persistent head lag (HP:0032988)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UMOD
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Proteinuria (HP:0000093)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Nephritis (HP:0000123)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Renal cyst (HP:0000107)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Polyuria (HP:0000103)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Decreased urinary urate (HP:0011935)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Middle age onset (HP:0003596)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Late onset (HP:0003584)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Progressive (HP:0003676)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Stage 2 chronic kidney disease (HP:0012624)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Stage 3 chronic kidney disease (HP:0012625)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Stage 4 chronic kidney disease (HP:0012626)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Stage 1 chronic kidney disease (HP:0012623)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Gout (HP:0001997)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Childhood onset (HP:0011463)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Young adult onset (HP:0011462)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: IgA deposition in the glomerulus (HP:0000794)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Hematuria (HP:0000790)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Hypertension (HP:0000822)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMOD
Phenotype: Renal interstitial fibrosis (HP:0032948)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Gene: UMPS
Phenotype: Hypochromia (HP:0032231)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Pyrimidine-responsive megaloblastic anemia (HP:0003339)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Orotic acid crystalluria (HP:0003526)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Orotic acid crystalluria (HP:0003526)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Folate-unresponsive megaloblastic anemia (HP:0004826)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Anemia (HP:0001903)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Hematuria (HP:0000790)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Reduced orotidine 5-prime phosphate decarboxylase level (HP:0003267)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: UMPS
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Orotidylic decarboxylase deficiency; Hereditary orotic aciduria; Uridine monophosphate synthetase deficiency (ORPHA:30)
Gene: UMPS
Phenotype: Anisocytosis (HP:0011273)
Associated disease: OROTIC ACIDURIA (OMIM:258900)
Gene: COL14A1
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Adenocarcinoma of the small intestine (HP:0040274)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Melanoma (HP:0002861)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Abnormal epidermal morphology (HP:0011124)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Verrucous papule (HP:0012500)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: COL14A1
Phenotype: Pain (HP:0012531)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: UNG
Phenotype: Epididymitis (HP:0000031)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UNG
Phenotype: Impaired Ig class switch recombination (HP:0002959)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Gene: UQCRB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Alaninuria (HP:0020078)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRB
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Gene: UQCRC1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)