TaoMedAI/RareMedData huggingface dataset:
Gene: HELLPAR
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Headache (HP:0002315)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Eclampsia (HP:0100601)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Increased body weight (HP:0004324)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Placental abruption (HP:0011419)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Shoulder pain (HP:0030834)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Maternal hypertension (HP:0008071)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Decreased mean corpuscular hemoglobin concentration (HP:0025547)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Fatigue (HP:0012378)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: IL12A-AS1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Myalgia (HP:0003326)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Migraine (HP:0002076)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Anorexia (HP:0002039)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Endocarditis (HP:0100584)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Pleuritis (HP:0002102)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Orchitis (HP:0100796)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Gangrene (HP:0100758)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Acne (HP:0001061)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Vertigo (HP:0002321)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Headache (HP:0002315)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Papule (HP:0200034)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Myositis (HP:0100614)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Pustule (HP:0200039)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: AA amyloidosis (HP:4000041)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Blindness (HP:0000618)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Photophobia (HP:0000613)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Fever (HP:0001945)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Irritability (HP:0000737)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Myocarditis (HP:0012819)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Positive pathergy test (HP:0025532)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Fatigue (HP:0012378)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A-AS1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: MYMX
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Hypotonia (HP:0001252)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Scoliosis (HP:0002650)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Cleft palate (HP:0000175)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: High, narrow palate (HP:0002705)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Abnormal skeletal muscle morphology (HP:0011805)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Infantile onset (HP:0003593)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Facial palsy (HP:0010628)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Aplasia of the pectoralis major muscle (HP:0009751)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Impaired ocular abduction (HP:0000634)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Dental crowding (HP:0000678)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Short stature (HP:0004322)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Glanular hypospadias (HP:0000807)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Myopathy (HP:0003198)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Short nose (HP:0003196)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Hooded upper eyelid (HP:0030822)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Pes valgus (HP:0008081)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Epicanthus (HP:0000286)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Microcephaly (HP:0000252)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: High palate (HP:0000218)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Growth delay (HP:0001510)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Increased overbite (HP:0011094)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Low-set ears (HP:0000369)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Long philtrum (HP:0000343)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Long philtrum (HP:0000343)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Hypomimic face (HP:0000338)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Micrognathia (HP:0000347)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Micrognathia (HP:0000347)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Abnormal nasal septum morphology (HP:0000419)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Protruding ear (HP:0000411)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMX
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Pes cavus (HP:0001761)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Gene: MYMX
Phenotype: Ptosis (HP:0000508)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: PERCC1
Phenotype: Abnormal small intestinal mucosa morphology (HP:0025129)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Arthritis (HP:0001369)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Elevated fecal osmolality (HP:0032486)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 11, MALABSORPTIVE, CONGENITAL (OMIM:618662)
Gene: PERCC1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Diarrhea (HP:0002014)
Associated disease: DIARRHEA 11, MALABSORPTIVE, CONGENITAL (OMIM:618662)
Gene: PERCC1
Phenotype: Vomiting (HP:0002013)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)