TaoMedAI/RareMedData huggingface dataset:
Gene: SARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Anemia (HP:0001903)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Premature birth (HP:0001622)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: RNF125
Phenotype: Motor delay (HP:0001270)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Gait disturbance (HP:0001288)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Syncope (HP:0001279)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Seizure (HP:0001250)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Hypotonia (HP:0001252)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Scoliosis (HP:0002650)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Macroglossia (HP:0000158)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Wide mouth (HP:0000154)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Large forehead (HP:0002003)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Apnea (HP:0002104)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Neonatal onset (HP:0003623)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Clumsiness (HP:0002312)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Enuresis (HP:0000805)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Anxiety (HP:0000739)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Emotional lability (HP:0000712)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Osteopenia (HP:0000938)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Macrocephaly (HP:0000256)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Anteverted nares (HP:0000463)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Wide nose (HP:0000445)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Telecanthus (HP:0000506)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: RNF125
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: TENORIO SYNDROME (OMIM:616260)
Gene: SDHAF2
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Neoplasm (HP:0002664)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Adult onset (HP:0003581)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Glomus jugular tumor (HP:0003001)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Chemodectoma (HP:0030074)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Vagal paraganglioma (HP:0002886)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Loss of voice (HP:0001686)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Glomus tympanicum paraganglioma (HP:0006715)
Associated disease: PARAGANGLIOMAS 2 (OMIM:601650)
Gene: SDHAF2
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHAF2
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: CT55
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CT55
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CT55
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CT55
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CT55
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 7 (OMIM:301106)
Gene: CT55
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CT55
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CT55
Phenotype: Excess residual spermatozoal cytoplasm (HP:0034795)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 7 (OMIM:301106)
Gene: CT55
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 7 (OMIM:301106)
Gene: CT55
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CT55
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 7 (OMIM:301106)
Gene: CT55
Phenotype: Multiflagellar spermatozoa (HP:0034309)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 7 (OMIM:301106)
Gene: CT55
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 7 (OMIM:301106)
Gene: CT55
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 7 (OMIM:301106)
Gene: TMEM70
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Seizure (HP:0001250)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Hypotonia (HP:0001252)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Gastroparesis (HP:0002578)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Neonatal death (HP:0003811)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Hypospadias (HP:0000047)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Hypospadias (HP:0000047)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Tremor (HP:0001337)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Wide mouth (HP:0000154)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Intention tremor (HP:0002080)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)