TaoMedAI/RareMedData huggingface dataset:
Gene: PMS1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Irritability (HP:0000737)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Depression (HP:0000716)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EXOSC9
Phenotype: Adducted thumb (HP:0001181)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Fetal distress (HP:0025116)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Poor head control (HP:0002421)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Motor delay (HP:0001270)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Seizure (HP:0001250)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Hypotonia (HP:0001252)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Ataxia (HP:0001251)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Spasticity (HP:0001257)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Congenital laryngeal stridor (HP:0004886)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Fasciculations (HP:0002380)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Progressive (HP:0003676)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Nystagmus (HP:0000639)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Fetal onset (HP:0011461)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Epicanthus (HP:0000286)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: High palate (HP:0000218)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Weak cry (HP:0001612)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Low-set ears (HP:0000369)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Strabismus (HP:0000486)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Short neck (HP:0000470)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC9
Phenotype: Esotropia (HP:0000565)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Gene: EXOSC9
Phenotype: Esotropia (HP:0000565)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: PMS2
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PMS2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Seizure (HP:0001250)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PMS2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PMS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: PMS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (OMIM:614337)
Gene: PMS2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PMS2
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (OMIM:614337)
Gene: PMS2
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Constipation (HP:0002019)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Migraine (HP:0002076)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PMS2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PMS2
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Memory impairment (HP:0002354)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Salivary gland neoplasm (HP:0100684)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (OMIM:614337)
Gene: PMS2
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: PMS2
Phenotype: Colon cancer (HP:0003003)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Colon cancer (HP:0003003)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PMS2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Irritability (HP:0000737)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Anxiety (HP:0000739)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Depression (HP:0000716)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Death in infancy (HP:0001522)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Fatigue (HP:0012378)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PMS2
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: PMS2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (OMIM:614337)
Gene: PMS2
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PMS2
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Weight loss (HP:0001824)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS2
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Gene: PRRX1
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Microglossia (HP:0000171)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)