| HP:0000006 |
Autosomal dominant inheritance |
| HP:0000007 |
Autosomal recessive inheritance |
| HP:0000093 |
Proteinuria |
| HP:0000096 |
Glomerular sclerosis |
| HP:0000131 |
Uterine leiomyoma |
| HP:0000218 |
High palate |
| HP:0000252 |
Microcephaly |
| HP:0000316 |
Hypertelorism |
| HP:0000405 |
Conductive hearing impairment |
| HP:0000463 |
Anteverted nares |
| HP:0000505 |
Visual impairment |
| HP:0000518 |
Cataract |
| HP:0000526 |
Aniridia |
| HP:0000648 |
Optic atrophy |
| HP:0000740 |
Episodic paroxysmal anxiety |
| HP:0000790 |
Hematuria |
| HP:0000980 |
Pallor |
| HP:0000989 |
Pruritus |
| HP:0001069 |
Episodic hyperhidrosis |
| HP:0001095 |
Hypertensive retinopathy |
| HP:0001252 |
Hypotonia |
| HP:0001263 |
Global developmental delay |
| HP:0001274 |
Agenesis of corpus callosum |
| HP:0001290 |
Generalized hypotonia |
| HP:0001293 |
Cranial nerve compression |
| HP:0001337 |
Tremor |
| HP:0001339 |
Lissencephaly |
| HP:0001342 |
Cerebral hemorrhage |
| HP:0001399 |
Hepatic failure |
| HP:0001406 |
Intrahepatic cholestasis |
| HP:0001508 |
Failure to thrive |
| HP:0001541 |
Ascites |
| HP:0001561 |
Polyhydramnios |
| HP:0001605 |
Vocal cord paralysis |
| HP:0001618 |
Dysphonia |
| HP:0001635 |
Congestive heart failure |
| HP:0001824 |
Weight loss |
| HP:0001901 |
Polycythemia |
| HP:0001942 |
Metabolic acidosis |
| HP:0001962 |
Palpitations |
| HP:0002007 |
Frontal bossing |
| HP:0002018 |
Nausea |
| HP:0002059 |
Cerebral atrophy |
| HP:0002119 |
Ventriculomegaly |
| HP:0002126 |
Polymicrogyria |
| HP:0002133 |
Status epilepticus |
| HP:0002167 |
Abnormality of speech or vocalization |
| HP:0002187 |
Intellectual disability, profound |
| HP:0002190 |
Choroid plexus cyst |
| HP:0002331 |
Recurrent paroxysmal headache |
| HP:0002365 |
Hypoplasia of the brainstem |
| HP:0002574 |
Episodic abdominal pain |
| HP:0002640 |
Hypertension associated with pheochromocytoma |
| HP:0002668 |
Paraganglioma |
| HP:0002864 |
Paraganglioma of head and neck |
| HP:0002891 |
Uterine leiomyosarcoma |
| HP:0002904 |
Hyperbilirubinemia |
| HP:0003011 |
Abnormality of the musculature |
| HP:0003072 |
Hypercalcemia |
| HP:0003128 |
Lactic acidosis |
| HP:0003345 |
Elevated urinary norepinephrine |
| HP:0003355 |
Aminoaciduria |
| HP:0003528 |
Elevated calcitonin |
| HP:0003536 |
Decreased fumarate hydratase activity |
| HP:0003574 |
Positive regitine blocking test |
| HP:0003639 |
Elevated urinary epinephrine |
| HP:0003758 |
Reduced subcutaneous adipose tissue |
| HP:0003829 |
Typified by incomplete penetrance |
| HP:0004482 |
Relative macrocephaly |
| HP:0005280 |
Depressed nasal bridge |
| HP:0005584 |
Renal cell carcinoma |
| HP:0006732 |
Papillary renal cell carcinoma type 2 |
| HP:0006737 |
Extraadrenal pheochromocytoma |
| HP:0006748 |
Adrenal pheochromocytoma |
| HP:0006755 |
Cutaneous leiomyosarcoma |
| HP:0007437 |
Multiple cutaneous leiomyomas |
| HP:0007620 |
Cutaneous leiomyoma |
| HP:0008629 |
Pulsatile tinnitus |
| HP:0009711 |
Retinal capillary hemangioma |
| HP:0010532 |
Paroxysmal vertigo |
| HP:0011129 |
Bilateral fetal pyelectasis |
| HP:0011682 |
Perimembranous ventricular septal defect |
| HP:0011703 |
Sinus tachycardia |
| HP:0011979 |
Elevated urinary dopamine |
| HP:0012222 |
Arachnoid hemangiomatosis |
| HP:0012378 |
Fatigue |
| HP:0025269 |
Panic attack |
| HP:0030774 |
Mitochondrial swelling |
| HP:0031284 |
Flushing |
| HP:0032106 |
Conjunctival icterus |
| HP:0033092 |
Increased urine succinate level |
| HP:0033165 |
Necrotizing enterocolitis |
| HP:0034198 |
Second trimester onset |
| HP:0034648 |
Elevated urine fumaric acid level |
| HP:0100580 |
Barrett esophagus |
| HP:0100650 |
Vaginal neoplasm |
| HP:0100749 |
Chest pain |
| HP:0100751 |
Esophageal neoplasm |
| HP:0100954 |
Open operculum |
