TaoMedAI/RareMedData huggingface dataset:
Gene: HTRA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Spasticity (HP:0001257)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 7 (OMIM:610149)
Gene: HTRA1
Phenotype: Lacunar stroke (HP:0032325)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Lacunar stroke (HP:0032325)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Carotid artery stenosis (HP:0100546)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Rigidity (HP:0002063)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Rigidity (HP:0002063)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Babinski sign (HP:0003487)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Low back pain (HP:0003419)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Back pain (HP:0003418)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Gait apraxia (HP:0010521)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Late onset (HP:0003584)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Aphasia (HP:0002381)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Status cribrosum (HP:0025012)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Headache (HP:0002315)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Vascular granular osmiophilic material deposition (HP:0003657)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Diffuse demyelination of the cerebral white matter (HP:0007162)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Cervical spondylosis (HP:0008480)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Arteriosclerosis of small cerebral arteries (HP:0004931)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 7 (OMIM:610149)
Gene: HTRA1
Phenotype: Abulia (HP:0012671)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Akinetic mutism (HP:0012672)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Hallucinations (HP:0000738)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Irritability (HP:0000737)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Anxiety (HP:0000739)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Delusion (HP:0000746)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Apathy (HP:0000741)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Dementia (HP:0000726)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Hypertension (HP:0000822)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Deep cerebral white matter hyperintensities (HP:0030892)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Neck pain (HP:0030833)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Localized osteoporosis (HP:0040161)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Alopecia (HP:0001596)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: PRTN3
Phenotype: Anti-proteinase 3 antibody positivity (HP:0033557)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Anti-myeloperoxidase antibody positivity (HP:0033559)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Meningitis (HP:0001287)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Seizure (HP:0001250)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Pulmonary nodule (HP:0033608)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Proteinuria (HP:0000093)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Ureteral stenosis (HP:0000071)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Arthritis (HP:0001369)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Prostatitis (HP:0000024)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Vasculitis (HP:0002633)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Myalgia (HP:0003326)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Scleritis (HP:0100532)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Pleuritis (HP:0002102)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Chest pain (HP:0100749)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Gangrene (HP:0100758)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Headache (HP:0002315)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Papule (HP:0200034)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Fever (HP:0001945)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Cough (HP:0012735)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Anti-neutrophil elastase antibody positivity (HP:0034104)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Hematuria (HP:0000790)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Hypertension (HP:0000822)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Purpura (HP:0000979)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Skin rash (HP:0000988)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Arthralgia (HP:0002829)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Sinusitis (HP:0000246)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Fatigue (HP:0012378)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Otitis media (HP:0000388)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Granulomatosis (HP:0002955)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Pericarditis (HP:0001701)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Keratitis (HP:0000491)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Retinopathy (HP:0000488)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Epistaxis (HP:0000421)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Proptosis (HP:0000520)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Weight loss (HP:0001824)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PRTN3
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PSAP
Phenotype: Hand clenching (HP:0001188)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)