#Created at 3/04/2016 12:28:26 (day/month/year hour:min:sec) Domain_type HP_id HP_name HP_subontology SDHO_level sf HP:0003679 Pace of progression Clinical_modifier Moderately Informative sf HP:0003828 Variable expressivity Clinical_modifier Moderately Informative sf HP:0003581 Adult onset Clinical_modifier Informative sf HP:0003677 Slow progression Clinical_modifier Informative sf HP:0003678 Rapidly progressive Clinical_modifier Informative sf HP:0003623 Neonatal onset Clinical_modifier Informative sf HP:0003593 Infantile onset Clinical_modifier Informative sf HP:0003577 Congenital onset Clinical_modifier Informative sf HP:0003621 Juvenile onset Clinical_modifier Informative sf HP:0011008 Temporal pattern Clinical_modifier Highly Informative sf HP:0011463 Childhood onset Clinical_modifier Highly Informative sf HP:0001699 Sudden death Mortality_Aging Least Informative sf HP:0003819 Death in childhood Mortality_Aging Least Informative sf HP:0000006 Autosomal dominant inheritance Mode_of_inheritance Least Informative sf HP:0001426 Multifactorial inheritance Mode_of_inheritance Informative sf HP:0001417 X-linked inheritance Mode_of_inheritance Informative sf HP:0001428 Somatic mutation Mode_of_inheritance Informative sf HP:0001450 Y-linked inheritance Mode_of_inheritance Informative sf HP:0003745 Sporadic Mode_of_inheritance Informative sf HP:0001425 Heterogeneous Mode_of_inheritance Highly Informative sf HP:0010984 Digenic inheritance Mode_of_inheritance Highly Informative sf HP:0010982 Polygenic inheritance Mode_of_inheritance Highly Informative sf HP:0001427 Mitochondrial inheritance Mode_of_inheritance Highly Informative sf HP:0001423 X-linked dominant inheritance Mode_of_inheritance Highly Informative sf HP:0000271 Abnormality of the face Phenotypic_abnormality Least Informative sf HP:0012639 Abnormality of nervous system morphology Phenotypic_abnormality Least Informative sf HP:0001939 Abnormality of metabolism/homeostasis Phenotypic_abnormality Least Informative sf HP:0011842 Abnormality of skeletal morphology Phenotypic_abnormality Least Informative sf HP:0000119 Abnormality of the genitourinary system Phenotypic_abnormality Least Informative sf HP:0012638 Abnormality of nervous system physiology Phenotypic_abnormality Least Informative sf HP:0001438 Abnormality of the abdomen Phenotypic_abnormality Least Informative sf HP:0000478 Abnormality of the eye Phenotypic_abnormality Least Informative sf HP:0040064 Abnormality of limbs Phenotypic_abnormality Least Informative sf HP:0001574 Abnormality of the integument Phenotypic_abnormality Least Informative sf HP:0001626 Abnormality of the cardiovascular system Phenotypic_abnormality Least Informative sf HP:0002715 Abnormality of the immune system Phenotypic_abnormality Least Informative sf HP:0003011 Abnormality of the musculature Phenotypic_abnormality Least Informative sf HP:0001507 Growth abnormality Phenotypic_abnormality Moderately Informative sf HP:0100547 Abnormality of forebrain morphology Phenotypic_abnormality Moderately Informative sf HP:0010935 Abnormality of the upper urinary tract Phenotypic_abnormality Moderately Informative sf HP:0002664 Neoplasm Phenotypic_abnormality Moderately Informative sf HP:0000818 Abnormality of the endocrine system Phenotypic_abnormality Moderately Informative sf HP:0004328 Abnormality of the anterior segment of the globe Phenotypic_abnormality Moderately Informative sf HP:0001155 Abnormality of the hand Phenotypic_abnormality Moderately Informative sf HP:0011297 Abnormality of digit Phenotypic_abnormality Moderately Informative sf HP:0001367 Abnormal joint morphology Phenotypic_abnormality Moderately Informative sf HP:0000366 Abnormality of the nose Phenotypic_abnormality Moderately Informative sf HP:0012243 Abnormal genital system morphology Phenotypic_abnormality Moderately Informative sf HP:0002597 Abnormality of the vasculature Phenotypic_abnormality Moderately Informative sf HP:0001760 Abnormality of the foot Phenotypic_abnormality Moderately Informative sf HP:0011446 Abnormality of higher mental function Phenotypic_abnormality Moderately Informative sf HP:0030680 Abnormality of cardiovascular system morphology Phenotypic_abnormality Moderately Informative sf HP:0011138 Abnormality of skin adnexa Phenotypic_abnormality Moderately Informative sf HP:0000315 Abnormality of the orbital region Phenotypic_abnormality Moderately Informative sf HP:0012647 Abnormal inflammatory response Phenotypic_abnormality Moderately Informative sf HP:0000929 Abnormality of the skull Phenotypic_abnormality Moderately Informative sf HP:0002088 Abnormality of the lung Phenotypic_abnormality Moderately Informative sf HP:0001871 Abnormality of blood and blood-forming tissues Phenotypic_abnormality Moderately Informative sf HP:0011277 Abnormality of the urinary system physiology Phenotypic_abnormality Moderately Informative sf HP:0000925 Abnormality of the vertebral column Phenotypic_abnormality Moderately Informative sf HP:0001392 Abnormality of the liver Phenotypic_abnormality Moderately Informative sf HP:0000708 Behavioral abnormality Phenotypic_abnormality Moderately Informative sf HP:0040069 Abnormality of lower limb bone Phenotypic_abnormality Moderately Informative sf HP:0012759 Neurodevelopmental abnormality Phenotypic_abnormality Moderately Informative sf HP:0011121 Abnormality of skin morphology Phenotypic_abnormality Moderately Informative sf HP:0011804 Abnormality of muscle physiology Phenotypic_abnormality Moderately Informative sf HP:0004329 Abnormality of the posterior segment of the globe Phenotypic_abnormality Moderately Informative sf HP:0004360 Abnormality of acid-base homeostasis Phenotypic_abnormality Moderately Informative sf HP:0003549 Abnormality of connective tissue Phenotypic_abnormality Moderately Informative sf HP:0011024 Abnormality of the gastrointestinal tract Phenotypic_abnormality Moderately Informative sf HP:0012373 Abnormal eye physiology Phenotypic_abnormality Moderately Informative sf HP:0000163 Abnormality of the oral cavity Phenotypic_abnormality Moderately Informative sf HP:0011442 Abnormality of central motor function Phenotypic_abnormality Moderately Informative sf HP:0100022 Abnormality of movement Phenotypic_abnormality Moderately Informative sf HP:0000598 Abnormality of the ear Phenotypic_abnormality Moderately Informative sf HP:0009115 Aplasia/hypoplasia involving the skeleton Phenotypic_abnormality Moderately Informative sf HP:0011013 Abnormality of carbohydrate metabolism/homeostasis Phenotypic_abnormality Moderately Informative sf HP:0011805 Abnormality of muscle morphology Phenotypic_abnormality Moderately Informative sf HP:0002795 Functional respiratory abnormality Phenotypic_abnormality Moderately Informative sf HP:0005368 Abnormality of humoral immunity Phenotypic_abnormality Moderately Informative sf HP:0011314 Abnormality of long bone morphology Phenotypic_abnormality Moderately Informative sf HP:0011025 Abnormality of cardiovascular system physiology Phenotypic_abnormality Moderately Informative sf HP:0000290 Abnormality of the forehead Phenotypic_abnormality Informative sf HP:0002648 Abnormality of calvarial morphology Phenotypic_abnormality Informative sf HP:0010938 Abnormality of the external nose Phenotypic_abnormality Informative sf HP:0003468 Abnormality of the vertebrae Phenotypic_abnormality Informative sf HP:0001317 Abnormality of the cerebellum Phenotypic_abnormality Informative sf HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs Phenotypic_abnormality Informative sf HP:0010674 Abnormality of the curvature of the vertebral column Phenotypic_abnormality Informative sf HP:0003272 Abnormality of the hip bone Phenotypic_abnormality Informative sf HP:0030236 Abnormality of muscle size Phenotypic_abnormality Informative sf HP:0004297 Abnormality of the biliary system Phenotypic_abnormality Informative sf HP:0001999 Abnormal facial shape Phenotypic_abnormality Informative sf HP:0002823 Abnormality of the femur Phenotypic_abnormality Informative sf HP:0001510 Growth delay Phenotypic_abnormality Informative sf HP:0011792 Neoplasm by histology Phenotypic_abnormality Informative sf HP:0001943 Hypoglycemia Phenotypic_abnormality Informative sf HP:0011947 Respiratory tract infection Phenotypic_abnormality Informative sf HP:0001654 Abnormality of the heart valves Phenotypic_abnormality Informative sf HP:0002093 Respiratory insufficiency Phenotypic_abnormality Informative sf HP:0030791 Abnormal jaw morphology Phenotypic_abnormality Informative sf HP:0000035 Abnormality of the testis Phenotypic_abnormality Informative sf HP:0011021 Abnormality of circulating enzyme level Phenotypic_abnormality Informative sf HP:0001637 Abnormality of the myocardium Phenotypic_abnormality Informative sf HP:0000083 Renal insufficiency Phenotypic_abnormality Informative sf HP:0000177 Abnormality of upper lip Phenotypic_abnormality Informative sf HP:0007364 Aplasia/Hypoplasia of the cerebrum Phenotypic_abnormality Informative sf HP:0001311 Abnormal nervous system electrophysiology Phenotypic_abnormality Informative sf HP:0000553 Abnormality of the uvea Phenotypic_abnormality Informative sf HP:0007379 Neoplasm of the genitourinary tract Phenotypic_abnormality Informative sf HP:0000464 Abnormality of the neck Phenotypic_abnormality Informative sf HP:0011356 Regional abnormality of skin Phenotypic_abnormality Informative sf HP:0011675 Arrhythmia Phenotypic_abnormality Informative sf HP:0000123 Nephritis Phenotypic_abnormality Informative sf HP:0011276 Vascular skin abnormality Phenotypic_abnormality Informative sf HP:0100851 Abnormal emotion/affect behavior Phenotypic_abnormality Informative sf HP:0001005 Dermatological manifestations of systemic disorders Phenotypic_abnormality Informative sf HP:0000481 Abnormality of the cornea Phenotypic_abnormality Informative sf HP:0012072 Aciduria Phenotypic_abnormality Informative sf HP:0004325 Decreased body weight Phenotypic_abnormality Informative sf HP:0000080 Abnormality of reproductive system physiology Phenotypic_abnormality Informative sf HP:0002157 Azotemia Phenotypic_abnormality Informative sf HP:0001371 Flexion contracture Phenotypic_abnormality Informative sf HP:0005561 Abnormality of bone marrow cell morphology Phenotypic_abnormality Informative sf HP:0002793 Abnormal pattern of respiration Phenotypic_abnormality Informative sf HP:0002087 Abnormality of the upper respiratory tract Phenotypic_abnormality Informative sf HP:0009127 Abnormality of the musculature of the limbs Phenotypic_abnormality Informative sf HP:0000517 Abnormality of the lens Phenotypic_abnormality Informative sf HP:0040070 Abnormality of upper limb bone Phenotypic_abnormality Informative sf HP:0000422 Abnormality of the nasal bridge Phenotypic_abnormality Informative sf HP:0001892 Abnormal bleeding Phenotypic_abnormality Informative sf HP:0011458 Abdominal symptom Phenotypic_abnormality Informative sf HP:0000095 Abnormality of the glomerulus Phenotypic_abnormality Informative sf HP:0100763 Abnormality of the lymphatic system Phenotypic_abnormality Informative sf HP:0100543 Cognitive impairment Phenotypic_abnormality Informative sf HP:0003119 Abnormality of lipid metabolism Phenotypic_abnormality Informative sf HP:0001249 Intellectual disability Phenotypic_abnormality Informative sf HP:0011355 Localized skin lesion Phenotypic_abnormality Informative sf HP:0000365 Hearing impairment Phenotypic_abnormality Informative sf HP:0011843 Abnormality of skeletal physiology Phenotypic_abnormality Informative sf HP:0011028 Abnormality of blood circulation Phenotypic_abnormality Informative sf HP:0000036 Abnormality of the penis Phenotypic_abnormality Informative sf HP:0000606 Abnormality of the periorbital region Phenotypic_abnormality Informative sf HP:0001197 Abnormality of prenatal development or birth Phenotypic_abnormality Informative sf HP:0003330 Abnormal bone structure Phenotypic_abnormality Informative sf HP:0012758 Neurodevelopmental delay Phenotypic_abnormality Informative sf HP:0000157 Abnormality of the tongue Phenotypic_abnormality Informative sf HP:0003701 Proximal muscle weakness Phenotypic_abnormality Informative sf HP:0012719 Functional abnormality of the gastrointestinal tract Phenotypic_abnormality Informative sf HP:0100491 Abnormality of lower limb joint Phenotypic_abnormality Informative sf HP:0002725 Systemic lupus erythematosus Phenotypic_abnormality Informative sf HP:0001608 Abnormality of the voice Phenotypic_abnormality Informative sf HP:0004303 Abnormality of muscle fibers Phenotypic_abnormality Informative sf HP:0012547 Abnormal involuntary eye movements Phenotypic_abnormality Informative sf HP:0005105 Abnormal nasal morphology Phenotypic_abnormality Informative sf HP:0010936 Abnormality of the lower urinary tract Phenotypic_abnormality Informative sf HP:0004332 Abnormality of lymphocytes Phenotypic_abnormality Informative sf HP:0011004 Abnormality of the systemic arterial tree Phenotypic_abnormality Informative sf HP:0004337 Abnormality of amino acid metabolism Phenotypic_abnormality Informative sf HP:0002493 Upper motor neuron dysfunction Phenotypic_abnormality Informative sf HP:0001288 Gait disturbance Phenotypic_abnormality Informative sf HP:0001780 Abnormality of toe Phenotypic_abnormality Informative sf HP:0000002 Abnormality of body height Phenotypic_abnormality Informative sf HP:0000240 Abnormality of skull size Phenotypic_abnormality Informative sf HP:0008056 Aplasia/Hypoplasia affecting the eye Phenotypic_abnormality Informative sf HP:0004431 Complement deficiency Phenotypic_abnormality Informative sf HP:0001250 Seizures Phenotypic_abnormality Informative sf HP:0011830 Abnormality of oral mucosa Phenotypic_abnormality Informative sf HP:0000504 Abnormality of vision Phenotypic_abnormality Informative sf HP:0000765 Abnormality of the thorax Phenotypic_abnormality Informative sf HP:0012718 Morphological abnormality of the gastrointestinal tract Phenotypic_abnormality Informative sf HP:0000356 Abnormality of the outer ear Phenotypic_abnormality Informative sf HP:0006292 Abnormality of dental eruption Phenotypic_abnormality Informative sf HP:0002269 Abnormality of neuronal migration Phenotypic_abnormality Informative sf HP:0011927 Short digit Phenotypic_abnormality Informative sf HP:0100887 Abnormality of globe size Phenotypic_abnormality Informative sf HP:0002538 Abnormality of the cerebral cortex Phenotypic_abnormality Informative sf HP:0011329 Abnormality of cranial sutures Phenotypic_abnormality Informative sf HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton Phenotypic_abnormality Informative sf HP:0001977 Abnormal thrombosis Phenotypic_abnormality Informative sf HP:0002118 Abnormality of the cerebral ventricles Phenotypic_abnormality Informative sf HP:0002167 Neurological speech impairment Phenotypic_abnormality Informative sf HP:0008050 Abnormality of the palpebral fissures Phenotypic_abnormality Informative sf HP:0004673 Decreased facial expression Phenotypic_abnormality Informative sf HP:0004298 Abnormality of the abdominal wall Phenotypic_abnormality Informative sf HP:0005927 Aplasia/hypoplasia involving bones of the hand Phenotypic_abnormality Informative sf HP:0003287 Abnormality of mitochondrial metabolism Phenotypic_abnormality Informative sf HP:0000539 Abnormality of refraction Phenotypic_abnormality Informative sf HP:0011362 Abnormal hair quantity Phenotypic_abnormality Informative sf HP:0001872 Abnormality of thrombocytes Phenotypic_abnormality Informative sf HP:0001254 Lethargy Phenotypic_abnormality Informative sf HP:0003111 Abnormality of ion homeostasis Phenotypic_abnormality Informative sf HP:0000359 Abnormality of the inner ear Phenotypic_abnormality Informative sf HP:0005930 Abnormality of epiphysis morphology Phenotypic_abnormality Informative sf HP:0000140 Abnormality of the menstrual cycle Phenotypic_abnormality Informative sf HP:0003560 Muscular dystrophy Phenotypic_abnormality Informative sf HP:0003241 External genital hypoplasia Phenotypic_abnormality Informative sf HP:0003117 Abnormality of circulating hormone level Phenotypic_abnormality Informative sf HP:0009830 Peripheral neuropathy Phenotypic_abnormality Informative sf HP:0100790 Hernia Phenotypic_abnormality Informative sf HP:0000137 Abnormality of the ovary Phenotypic_abnormality Informative sf HP:0100037 Abnormality of the scalp hair Phenotypic_abnormality Informative sf HP:0011443 Abnormality of coordination Phenotypic_abnormality Informative sf HP:0001713 Abnormality of cardiac ventricle Phenotypic_abnormality Informative sf HP:0001732 Abnormality of the pancreas Phenotypic_abnormality Informative sf HP:0000479 Abnormality of the retina Phenotypic_abnormality Informative sf HP:0011450 CNS infection Phenotypic_abnormality Informative sf HP:0005918 Abnormality of phalanx of finger Phenotypic_abnormality Informative sf HP:0002719 Recurrent infections Phenotypic_abnormality Informative sf HP:0001252 Muscular hypotonia Phenotypic_abnormality Informative sf HP:0002033 Poor suck Phenotypic_abnormality Highly Informative sf HP:0001386 Joint swelling Phenotypic_abnormality Highly Informative sf HP:0007362 Aplasia/Hypoplasia of the brainstem Phenotypic_abnormality Highly Informative sf HP:0002460 Distal muscle weakness Phenotypic_abnormality Highly Informative sf HP:0011304 Broad thumb Phenotypic_abnormality Highly Informative sf HP:0007354 Amyotrophic lateral sclerosis Phenotypic_abnormality Highly Informative sf HP:0002392 EEG with polyspike wave complexes Phenotypic_abnormality Highly Informative sf HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness Phenotypic_abnormality Highly Informative sf HP:0012043 Pendular nystagmus Phenotypic_abnormality Highly Informative sf HP:0001348 Brisk reflexes Phenotypic_abnormality Highly Informative sf HP:0100574 Biliary tract neoplasm Phenotypic_abnormality Highly Informative sf HP:0003026 Short long bone Phenotypic_abnormality Highly Informative sf HP:0006499 Abnormality of femoral epiphysis Phenotypic_abnormality Highly Informative sf HP:0004376 Neuroblastic tumors Phenotypic_abnormality Highly Informative sf HP:0000678 Dental crowding Phenotypic_abnormality Highly Informative sf HP:0005268 Spontaneous abortion Phenotypic_abnormality Highly Informative sf HP:0004334 Dermal atrophy Phenotypic_abnormality Highly Informative sf HP:0004426 Abnormality of the cheek Phenotypic_abnormality Highly Informative sf HP:0002900 Hypokalemia Phenotypic_abnormality Highly Informative sf HP:0003388 Easy fatigability Phenotypic_abnormality Highly Informative sf HP:0010301 Spinal dysraphism Phenotypic_abnormality Highly Informative sf HP:0030065 Primitive neuroectodermal tumor Phenotypic_abnormality Highly Informative sf HP:0001678 Atrioventricular block Phenotypic_abnormality Highly Informative sf HP:0030223 Perseveration Phenotypic_abnormality Highly Informative sf HP:0000047 Hypospadias Phenotypic_abnormality Highly Informative sf HP:0000670 Carious teeth Phenotypic_abnormality Highly Informative sf HP:0000431 Wide nasal bridge Phenotypic_abnormality Highly Informative sf HP:0000773 Short ribs Phenotypic_abnormality Highly Informative sf HP:0009556 Absent tibia Phenotypic_abnormality Highly Informative sf HP:0002812 Coxa vara Phenotypic_abnormality Highly Informative sf HP:0003541 Urinary glycosaminoglycan excretion Phenotypic_abnormality Highly Informative sf HP:0011357 Abnormality of hair density Phenotypic_abnormality Highly Informative sf HP:0008064 Ichthyosis Phenotypic_abnormality Highly Informative sf HP:0000833 Glucose intolerance Phenotypic_abnormality Highly Informative sf HP:0000581 Blepharophimosis Phenotypic_abnormality Highly Informative sf HP:0001319 Neonatal hypotonia Phenotypic_abnormality Highly Informative sf HP:0000544 External ophthalmoplegia Phenotypic_abnormality Highly Informative sf HP:0007372 Atrophy/Degeneration involving the corticospinal tracts Phenotypic_abnormality Highly Informative sf HP:0012223 Splenic rupture Phenotypic_abnormality Highly Informative sf HP:0006946 Recurrent meningitis Phenotypic_abnormality Highly Informative sf HP:0007663 Reduced visual acuity Phenotypic_abnormality Highly Informative sf HP:0000648 Optic atrophy Phenotypic_abnormality Highly Informative sf HP:0010183 Abnormality of the middle phalanges of the toes Phenotypic_abnormality Highly Informative sf HP:0000859 Hyperaldosteronism Phenotypic_abnormality Highly Informative sf HP:0001332 Dystonia Phenotypic_abnormality Highly Informative sf HP:0045025 Small palpebral fissure Phenotypic_abnormality Highly Informative sf HP:0000972 Palmoplantar hyperkeratosis Phenotypic_abnormality Highly Informative sf HP:0000817 Poor eye contact Phenotypic_abnormality Highly Informative sf HP:0006716 Hereditary nonpolyposis colorectal carcinoma Phenotypic_abnormality Highly Informative sf HP:0004349 Reduced bone mineral density Phenotypic_abnormality Highly Informative sf HP:0000202 Oral cleft Phenotypic_abnormality Highly Informative sf HP:0000399 Prelingual sensorineural hearing impairment Phenotypic_abnormality Highly Informative sf HP:0010535 Sleep apnea Phenotypic_abnormality Highly Informative sf HP:0000028 Cryptorchidism Phenotypic_abnormality Highly Informative sf HP:0002058 Myopathic facies Phenotypic_abnormality Highly Informative sf HP:0000448 Prominent nose Phenotypic_abnormality Highly Informative sf HP:0000943 Dysostosis multiplex Phenotypic_abnormality Highly Informative sf HP:0001513 Obesity Phenotypic_abnormality Highly Informative sf HP:0002113 Pulmonary infiltrates Phenotypic_abnormality Highly Informative sf HP:0000096 Glomerulosclerosis Phenotypic_abnormality Highly Informative sf HP:0012209 Juvenile myelomonocytic leukemia Phenotypic_abnormality Highly Informative sf HP:0011481 Abnormality of the lacrimal duct Phenotypic_abnormality Highly Informative sf HP:0003402 Decreased miniature endplate potentials Phenotypic_abnormality Highly Informative sf HP:0003325 Limb-girdle muscle weakness Phenotypic_abnormality Highly Informative sf HP:0001831 Short toe Phenotypic_abnormality Highly Informative sf HP:0100658 Cellulitis Phenotypic_abnormality Highly Informative sf HP:0011898 Abnormality of circulating fibrinogen Phenotypic_abnormality Highly Informative sf HP:0002084 Encephalocele Phenotypic_abnormality Highly Informative sf HP:0002366 Abnormal lower motor neuron morphology Phenotypic_abnormality Highly Informative sf HP:0010747 Medial flaring of the eyebrow Phenotypic_abnormality Highly Informative sf HP:0001511 Intrauterine growth retardation Phenotypic_abnormality Highly Informative sf HP:0010766 Ectopic calcification Phenotypic_abnormality Highly Informative sf HP:0030724 Central nervous system cyst Phenotypic_abnormality Highly Informative sf HP:0009136 Duplication involving bones of the feet Phenotypic_abnormality Highly Informative sf HP:0003254 Abnormality of DNA repair Phenotypic_abnormality Highly Informative sf HP:0001331 Absent septum pellucidum Phenotypic_abnormality Highly Informative sf HP:0003693 Distal amyotrophy Phenotypic_abnormality Highly Informative sf HP:0002948 Vertebral fusion Phenotypic_abnormality Highly Informative sf HP:0001308 Tongue fasciculations Phenotypic_abnormality Highly Informative sf HP:0001840 Metatarsus adductus Phenotypic_abnormality Highly Informative sf HP:0003436 Prolonged miniature endplate currents Phenotypic_abnormality Highly Informative sf HP:0008518 Aplasia/Hypoplasia involving the vertebral column Phenotypic_abnormality Highly Informative sf HP:0001824 Weight loss Phenotypic_abnormality Highly Informative sf HP:0008209 Premature ovarian failure Phenotypic_abnormality Highly Informative sf HP:0000786 Primary amenorrhea Phenotypic_abnormality Highly Informative sf HP:0002877 Nocturnal hypoventilation Phenotypic_abnormality Highly Informative sf HP:0100755 Abnormality of salivation Phenotypic_abnormality Highly Informative sf HP:0005261 Joint hemorrhage Phenotypic_abnormality Highly Informative sf HP:0006957 Loss of ability to walk Phenotypic_abnormality Highly Informative sf HP:0001724 Aortic dilatation Phenotypic_abnormality Highly Informative sf HP:0002071 Abnormality of extrapyramidal motor function Phenotypic_abnormality Highly Informative sf HP:0002244 Abnormality of the small intestine Phenotypic_abnormality Highly Informative sf HP:0001040 Multiple pterygia Phenotypic_abnormality Highly Informative sf HP:0000499 Abnormality of the eyelashes Phenotypic_abnormality Highly Informative sf HP:0001541 Ascites Phenotypic_abnormality Highly Informative sf HP:0002463 Language impairment Phenotypic_abnormality Highly Informative sf HP:0003443 Decreased size of nerve terminals Phenotypic_abnormality Highly Informative sf HP:0000014 Abnormality of the bladder Phenotypic_abnormality Highly Informative sf HP:0001518 Small for gestational age Phenotypic_abnormality Highly Informative sf HP:0002013 Vomiting Phenotypic_abnormality Highly Informative sf HP:0002014 Diarrhea Phenotypic_abnormality Highly Informative sf HP:0009890 High anterior hairline Phenotypic_abnormality Highly Informative sf HP:0009804 Reduced number of teeth Phenotypic_abnormality Highly Informative sf HP:0011991 Abnormal neutrophil cell number Phenotypic_abnormality Highly Informative sf HP:0004446 Stomatocytosis Phenotypic_abnormality Highly Informative sf HP:0000718 Aggressive behavior Phenotypic_abnormality Highly Informative sf HP:0002894 Neoplasm of the pancreas Phenotypic_abnormality Highly Informative sf HP:0000225 Gingival bleeding Phenotypic_abnormality Highly Informative sf HP:0001970 Tubulointerstitial nephritis Phenotypic_abnormality Highly Informative sf HP:0002317 Unsteady gait Phenotypic_abnormality Highly Informative sf HP:0002047 Malignant hyperthermia Phenotypic_abnormality Highly Informative sf HP:0007569 Generalized seborrheic dermatitis Phenotypic_abnormality Highly Informative sf HP:0002034 Abnormality of the rectum Phenotypic_abnormality Highly Informative sf HP:0003487 Babinski sign Phenotypic_abnormality Highly Informative sf HP:0003016 Metaphyseal widening Phenotypic_abnormality Highly Informative sf HP:0010696 Polar cataract Phenotypic_abnormality Highly Informative sf HP:0003199 Decreased muscle mass Phenotypic_abnormality Highly Informative sf HP:0011747 Abnormality of the anterior pituitary Phenotypic_abnormality Highly Informative sf HP:0001006 Hypotrichosis Phenotypic_abnormality Highly Informative sf HP:0011840 Abnormality of T cell physiology Phenotypic_abnormality Highly Informative sf HP:0001837 Broad toe Phenotypic_abnormality Highly Informative sf HP:0003690 Limb muscle weakness Phenotypic_abnormality Highly Informative sf HP:0000421 Epistaxis Phenotypic_abnormality Highly Informative sf HP:0008756 Bowing of the vocal cords Phenotypic_abnormality Highly Informative sf HP:0002090 Pneumonia Phenotypic_abnormality Highly Informative sf HP:0011315 Unicoronal synostosis Phenotypic_abnormality Highly Informative sf HP:0100360 Contractures of the joints of the upper limbs Phenotypic_abnormality Highly Informative sf HP:0000090 Nephronophthisis Phenotypic_abnormality Highly Informative sf HP:0100299 Muscle fiber inclusion bodies Phenotypic_abnormality Highly Informative sf HP:0001265 Hyporeflexia Phenotypic_abnormality Highly Informative sf HP:0100285 EMG: impaired neuromuscular transmission Phenotypic_abnormality Highly Informative sf HP:0000388 Otitis media Phenotypic_abnormality Highly Informative sf HP:0001612 Weak cry Phenotypic_abnormality Highly Informative sf HP:0003310 Abnormality of the odontoid process Phenotypic_abnormality Highly Informative sf HP:0030177 Abnormality of peripheral nervous system electrophysiology Phenotypic_abnormality Highly Informative sf HP:0006813 Hemiclonic seizures Phenotypic_abnormality Highly Informative sf HP:0100833 Neoplasm of the small intestine Phenotypic_abnormality Highly Informative sf HP:0002141 Gait imbalance Phenotypic_abnormality Highly Informative sf HP:0008020 Progressive cone degeneration Phenotypic_abnormality Highly Informative sf HP:0001141 Severe visual impairment Phenotypic_abnormality Highly Informative sf HP:0010468 Aplasia/Hypoplasia of the testes Phenotypic_abnormality Highly Informative sf HP:0000618 Blindness Phenotypic_abnormality Highly Informative sf HP:0003391 Gowers sign Phenotypic_abnormality Highly Informative sf HP:0000045 Abnormality of the scrotum Phenotypic_abnormality Highly Informative sf HP:0000769 Abnormality of the breast Phenotypic_abnormality Highly Informative sf HP:0008678 Renal hypoplasia/aplasia Phenotypic_abnormality Highly Informative sf HP:0030506 Yellow/white lesions of the retina Phenotypic_abnormality Highly Informative sf HP:0003155 Elevated alkaline phosphatase Phenotypic_abnormality Highly Informative sf HP:0001873 Thrombocytopenia Phenotypic_abnormality Highly Informative sf HP:0002827 Hip dislocation Phenotypic_abnormality Highly Informative sf HP:0001291 Abnormality of the cranial nerves Phenotypic_abnormality Highly Informative sf HP:0001597 Abnormality of the nail Phenotypic_abnormality Highly Informative sf HP:0003401 Paresthesia Phenotypic_abnormality Highly Informative sf HP:0003108 Hyperglycinuria Phenotypic_abnormality Highly Informative sf HP:0002872 Apneic episodes precipitated by illness, fatigue, stress Phenotypic_abnormality Highly Informative sf HP:0000613 Photophobia Phenotypic_abnormality Highly Informative sf HP:0000429 Abnormality of the nasal alae Phenotypic_abnormality Highly Informative sf HP:0000276 Long face Phenotypic_abnormality Highly Informative sf HP:0006802 Abnormal anterior horn cell morphology Phenotypic_abnormality Highly Informative sf HP:0002151 Increased serum lactate Phenotypic_abnormality Highly Informative sf HP:0011026 Aplasia/Hypoplasia of the vagina Phenotypic_abnormality Highly Informative sf HP:0002835 Aspiration Phenotypic_abnormality Highly Informative sf HP:0001257 Spasticity Phenotypic_abnormality Highly Informative sf HP:0000010 Recurrent urinary tract infections Phenotypic_abnormality Highly Informative sf HP:0002837 Recurrent bronchitis Phenotypic_abnormality Highly Informative sf HP:0007024 Pseudobulbar paralysis Phenotypic_abnormality Highly Informative sf HP:0000736 Short attention span Phenotypic_abnormality Highly Informative sf HP:0002908 Conjugated hyperbilirubinemia Phenotypic_abnormality Highly Informative sf HP:0002119 Ventriculomegaly Phenotypic_abnormality Highly Informative sf HP:0012614 Abnormal urine cytology Phenotypic_abnormality Highly Informative sf HP:0008061 Aplasia/Hypoplasia of the retina Phenotypic_abnormality Highly Informative sf HP:0003712 Skeletal muscle hypertrophy Phenotypic_abnormality Highly Informative sf HP:0100659 Abnormality of the cerebral vasculature Phenotypic_abnormality Highly Informative sf HP:0001723 Restrictive cardiomyopathy Phenotypic_abnormality Highly Informative sf HP:0002778 Abnormality of the trachea Phenotypic_abnormality Highly Informative sf HP:0000741 Apathy Phenotypic_abnormality Highly Informative sf HP:0100615 Ovarian neoplasm Phenotypic_abnormality Highly Informative sf HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction Phenotypic_abnormality Highly Informative sf HP:0002750 Delayed skeletal maturation Phenotypic_abnormality Highly Informative sf HP:0000174 Abnormality of the palate Phenotypic_abnormality Highly Informative sf HP:0009726 Renal neoplasm Phenotypic_abnormality Highly Informative sf HP:0100526 Neoplasm of the lung Phenotypic_abnormality Highly Informative sf HP:0000457 Depressed nasal ridge Phenotypic_abnormality Highly Informative sf HP:0000027 Azoospermia Phenotypic_abnormality Highly Informative sf HP:0001548 Overgrowth Phenotypic_abnormality Highly Informative sf HP:0002483 Bulbar signs Phenotypic_abnormality Highly Informative sf HP:0000609 Optic nerve hypoplasia Phenotypic_abnormality Highly Informative sf HP:0011409 Abnormality of placental membranes Phenotypic_abnormality Highly Informative sf HP:0002300 Mutism Phenotypic_abnormality Highly Informative sf HP:0002500 Abnormality of the cerebral white matter Phenotypic_abnormality Highly Informative sf HP:0009803 Short phalanx of finger Phenotypic_abnormality Highly Informative sf HP:0005054 Metaphyseal spurs Phenotypic_abnormality Highly Informative sf HP:0002354 Memory impairment Phenotypic_abnormality Highly Informative sf HP:0011107 Recurrent aphthous stomatitis Phenotypic_abnormality Highly Informative sf HP:0009832 Abnormality of the distal phalanx of finger Phenotypic_abnormality Highly Informative sf HP:0006808 Cerebral hypomyelination Phenotypic_abnormality Highly Informative sf HP:0010804 Tented upper lip vermilion Phenotypic_abnormality Highly Informative sf HP:0002321 Vertigo Phenotypic_abnormality Highly Informative sf HP:0002145 Frontotemporal dementia Phenotypic_abnormality Highly Informative sf HP:0005576 Tubulointerstitial fibrosis Phenotypic_abnormality Highly Informative sf HP:0003215 Dicarboxylic aciduria Phenotypic_abnormality Highly Informative sf HP:0003323 Progressive muscle weakness Phenotypic_abnormality Highly Informative sf HP:0002754 Osteomyelitis Phenotypic_abnormality Highly Informative sf HP:0002089 Pulmonary hypoplasia Phenotypic_abnormality Highly Informative sf HP:0001120 Abnormality of corneal size Phenotypic_abnormality Highly Informative sf HP:0000110 Renal dysplasia Phenotypic_abnormality Highly Informative sf HP:0008067 Abnormally lax or hyperextensible skin Phenotypic_abnormality Highly Informative sf HP:0011338 Abnormality of mouth shape Phenotypic_abnormality Highly Informative sf HP:0000107 Renal cyst Phenotypic_abnormality Highly Informative sf HP:0003234 Decreased plasma carnitine Phenotypic_abnormality Highly Informative sf HP:0000023 Inguinal hernia Phenotypic_abnormality Highly Informative sf HP:0003554 Type 2 muscle fiber atrophy Phenotypic_abnormality Highly Informative sf HP:0004327 Abnormality of the vitreous humor Phenotypic_abnormality Highly Informative sf HP:0100732 Pancreatic fibrosis Phenotypic_abnormality Highly Informative sf HP:0001162 Postaxial hand polydactyly Phenotypic_abnormality Highly Informative sf HP:0002882 Sudden episodic apnea Phenotypic_abnormality Highly Informative sf HP:0001629 Ventricular septal defect Phenotypic_abnormality Highly Informative sf HP:0001320 Cerebellar vermis hypoplasia Phenotypic_abnormality Highly Informative sf HP:0003170 Abnormality of the acetabulum Phenotypic_abnormality Highly Informative sf HP:0008053 Aplasia/Hypoplasia of the iris Phenotypic_abnormality Highly Informative sf HP:0000470 Short neck Phenotypic_abnormality Highly Informative sf HP:0002174 Postural tremor Phenotypic_abnormality Highly Informative sf HP:0000467 Neck muscle weakness Phenotypic_abnormality Highly Informative sf HP:0001163 Abnormality of the metacarpal bones Phenotypic_abnormality Highly Informative sf HP:0003003 Colon cancer Phenotypic_abnormality Highly Informative sf HP:0009810 Abnormality of upper limb joint Phenotypic_abnormality Highly Informative sf HP:0003324 Generalized muscle weakness Phenotypic_abnormality Highly Informative sf HP:0002240 Hepatomegaly Phenotypic_abnormality Highly Informative sf HP:0003394 Muscle cramps Phenotypic_abnormality Highly Informative sf HP:0001000 Abnormality of skin pigmentation Phenotypic_abnormality Highly Informative sf HP:0000946 Hypoplastic ilia Phenotypic_abnormality Highly Informative sf HP:0012368 Flat face Phenotypic_abnormality Highly Informative sf HP:0001933 Subcutaneous hemorrhage Phenotypic_abnormality Highly Informative sf HP:0006089 Palmar hyperhidrosis Phenotypic_abnormality Highly Informative sf HP:0003473 Fatigable weakness Phenotypic_abnormality Highly Informative sf HP:0003805 Rimmed vacuoles Phenotypic_abnormality Highly Informative sf HP:0000548 Cone/cone-rod dystrophy Phenotypic_abnormality Highly Informative sf HP:0004408 Abnormality of the sense of smell Phenotypic_abnormality Highly Informative sf HP:0008897 Postnatal growth retardation Phenotypic_abnormality Highly Informative sf HP:0007641 Dyschromatopsia Phenotypic_abnormality Highly Informative sf HP:0008625 Severe sensorineural hearing impairment Phenotypic_abnormality Highly Informative sf HP:0009756 Popliteal pterygium Phenotypic_abnormality Highly Informative sf HP:0002305 Athetosis Phenotypic_abnormality Highly Informative sf HP:0000734 Disinhibition Phenotypic_abnormality Highly Informative sf HP:0000238 Hydrocephalus Phenotypic_abnormality Highly Informative sf HP:0005214 Intestinal obstruction Phenotypic_abnormality Highly Informative sf HP:0000612 Iris coloboma Phenotypic_abnormality Highly Informative sf HP:0000340 Sloping forehead Phenotypic_abnormality Highly Informative sf HP:0000610 Abnormality of the choroid Phenotypic_abnormality Highly Informative sf HP:0005905 Abnormal cervical curvature Phenotypic_abnormality Highly Informative sf HP:0000411 Protruding ear Phenotypic_abnormality Highly Informative sf HP:0003634 Amyoplasia Phenotypic_abnormality Highly Informative sf HP:0006753 Neoplasm of the stomach Phenotypic_abnormality Highly Informative sf HP:0011390 Morphological abnormality of the inner ear Phenotypic_abnormality Highly Informative sf HP:0000331 Short chin Phenotypic_abnormality Highly Informative sf HP:0006482 Abnormality of dental morphology Phenotypic_abnormality Highly Informative sf HP:0001712 Left ventricular hypertrophy Phenotypic_abnormality Highly Informative sf HP:0002536 Abnormal cortical gyration Phenotypic_abnormality Highly Informative sf HP:0001558 Decreased fetal movement Phenotypic_abnormality Highly Informative sf HP:0001844 Abnormality of the hallux Phenotypic_abnormality Highly Informative sf HP:0002818 Abnormality of the radius Phenotypic_abnormality Highly Informative sf HP:0005750 Contractures of the joints of the lower limbs Phenotypic_abnormality Highly Informative sf HP:0200120 Chronic active hepatitis Phenotypic_abnormality Highly Informative sf HP:0003474 Sensory impairment Phenotypic_abnormality Highly Informative sf HP:0000712 Emotional lability Phenotypic_abnormality Highly Informative sf HP:0040066 Abnormal morphology of bones of the lower limbs Phenotypic_abnormality Highly Informative sf HP:0002133 Status epilepticus Phenotypic_abnormality Highly Informative sf HP:0001263 Global developmental delay Phenotypic_abnormality Highly Informative sf HP:0002633 Vasculitis Phenotypic_abnormality Highly Informative sf HP:0004414 Abnormality of the pulmonary artery Phenotypic_abnormality Highly Informative sf HP:0001395 Hepatic fibrosis Phenotypic_abnormality Highly Informative sf HP:0005180 Tricuspid regurgitation Phenotypic_abnormality Highly Informative sf HP:0002716 Lymphadenopathy Phenotypic_abnormality Highly Informative sf HP:0000275 Narrow face Phenotypic_abnormality Highly Informative sf HP:0009806 Nephrogenic diabetes insipidus Phenotypic_abnormality Highly Informative sf HP:0001083 Ectopia lentis Phenotypic_abnormality Highly Informative sf HP:0001878 Hemolytic anemia Phenotypic_abnormality Highly Informative sf HP:0001696 Situs inversus totalis Phenotypic_abnormality Highly Informative sf HP:0002374 Diminished movement Phenotypic_abnormality Highly Informative sf HP:0007707 Congenital primary aphakia Phenotypic_abnormality Highly Informative sf HP:0000695 Natal tooth Phenotypic_abnormality Highly Informative sf HP:0007417 Discoid lupus erythematosus Phenotypic_abnormality Highly Informative sf HP:0003774 Stage 5 chronic kidney disease Phenotypic_abnormality Highly Informative sf HP:0001369 Arthritis Phenotypic_abnormality Highly Informative sf HP:0010702 Increased antibody level in blood Phenotypic_abnormality Highly Informative sf HP:0003128 Lactic acidosis Phenotypic_abnormality Highly Informative sf HP:0007759 Opacification of the corneal stroma Phenotypic_abnormality Highly Informative sf HP:0001647 Bicuspid aortic valve Phenotypic_abnormality Highly Informative sf HP:0000952 Jaundice Phenotypic_abnormality Highly Informative sf HP:0002311 Incoordination Phenotypic_abnormality Highly Informative sf HP:0000512 Abnormal electroretinogram Phenotypic_abnormality Highly Informative sf HP:0002069 Generalized tonic-clonic seizures Phenotypic_abnormality Highly Informative sf HP:0000662 Nyctalopia Phenotypic_abnormality Highly Informative sf HP:0012114 Endometrial carcinoma Phenotypic_abnormality Highly Informative sf HP:0003259 Elevated serum creatinine Phenotypic_abnormality Highly Informative sf HP:0000248 Brachycephaly Phenotypic_abnormality Highly Informative sf HP:0005110 Atrial fibrillation Phenotypic_abnormality Highly Informative sf HP:0000549 Abnormal conjugate eye movement Phenotypic_abnormality Highly Informative sf HP:0000252 Microcephaly Phenotypic_abnormality Highly Informative sf HP:0002605 Hepatic necrosis Phenotypic_abnormality Highly Informative sf HP:0000426 Prominent nasal bridge Phenotypic_abnormality Highly Informative sf HP:0001633 Abnormality of the mitral valve Phenotypic_abnormality Highly Informative sf HP:0005430 Recurrent Neisserial infections Phenotypic_abnormality Highly Informative sf HP:0001399 Hepatic failure Phenotypic_abnormality Highly Informative sf HP:0001961 Hypoplastic heart Phenotypic_abnormality Highly Informative sf HP:0000751 Personality changes Phenotypic_abnormality Highly Informative sf HP:0000529 Progressive visual loss Phenotypic_abnormality Highly Informative sf HP:0003691 Scapular winging Phenotypic_abnormality Highly Informative sf HP:0000580 Pigmentary retinopathy Phenotypic_abnormality Highly Informative sf HP:0001259 Coma Phenotypic_abnormality Highly Informative sf HP:0003107 Abnormality of cholesterol metabolism Phenotypic_abnormality Highly Informative sf HP:0004418 Thrombophlebitis Phenotypic_abnormality Highly Informative sf HP:0003312 Abnormal form of the vertebral bodies Phenotypic_abnormality Highly Informative sf HP:0001744 Splenomegaly Phenotypic_abnormality Highly Informative sf HP:0002804 Arthrogryposis multiplex congenita Phenotypic_abnormality Highly Informative sf HP:0003326 Myalgia Phenotypic_abnormality Highly Informative sf HP:0011603 Congenital malformation of the great arteries Phenotypic_abnormality Highly Informative sf HP:0001430 Abnormality of the calf musculature Phenotypic_abnormality Highly Informative sf HP:0008066 Abnormal blistering of the skin Phenotypic_abnormality Highly Informative sf HP:0001103 Abnormality of the macula Phenotypic_abnormality Highly Informative sf HP:0001284 Areflexia Phenotypic_abnormality Highly Informative sf HP:0002829 Arthralgia Phenotypic_abnormality Highly Informative sf HP:0000054 Micropenis Phenotypic_abnormality Highly Informative sf HP:0008180 Mildly elevated creatine phosphokinase Phenotypic_abnormality Highly Informative sf HP:0001283 Bulbar palsy Phenotypic_abnormality Highly Informative sf HP:0001987 Hyperammonemia Phenotypic_abnormality Highly Informative sf HP:0100886 Abnormality of globe location Phenotypic_abnormality Highly Informative sf HP:0002239 Gastrointestinal hemorrhage Phenotypic_abnormality Highly Informative sf HP:0001397 Hepatic steatosis Phenotypic_abnormality Highly Informative sf HP:0000819 Diabetes mellitus Phenotypic_abnormality Highly Informative sf HP:0002270 Abnormality of the autonomic nervous system Phenotypic_abnormality Highly Informative sf HP:0000135 Hypogonadism Phenotypic_abnormality Highly Informative sf HP:0100242 Sarcoma Phenotypic_abnormality Highly Informative sf HP:0100533 Inflammatory abnormality of the eye Phenotypic_abnormality Highly Informative sf HP:0000545 Myopia Phenotypic_abnormality Highly Informative sf HP:0000793 Membranoproliferative glomerulonephritis Phenotypic_abnormality Highly Informative sf HP:0002098 Respiratory distress Phenotypic_abnormality Highly Informative sf HP:0001644 Dilated cardiomyopathy Phenotypic_abnormality Highly Informative fa HP:0000006 Autosomal dominant inheritance Mode_of_inheritance Least Informative fa HP:0010985 Gonosomal inheritance Mode_of_inheritance Informative fa HP:0001428 Somatic mutation Mode_of_inheritance Informative fa HP:0001425 Heterogeneous Mode_of_inheritance Informative fa HP:0001423 X-linked dominant inheritance Mode_of_inheritance Highly Informative fa HP:0010982 Polygenic inheritance Mode_of_inheritance Highly Informative fa HP:0001419 X-linked recessive inheritance Mode_of_inheritance Highly Informative fa HP:0001442 Somatic mosaicism Mode_of_inheritance Highly Informative fa HP:0003745 Sporadic Mode_of_inheritance Highly Informative fa HP:0001450 Y-linked inheritance Mode_of_inheritance Highly Informative fa HP:0003621 Juvenile onset Clinical_modifier Moderately Informative fa HP:0003679 Pace of progression Clinical_modifier Moderately Informative fa HP:0003581 Adult onset Clinical_modifier Moderately Informative fa HP:0003812 Phenotypic variability Clinical_modifier Moderately Informative fa HP:0003577 Congenital onset Clinical_modifier Moderately Informative fa HP:0003593 Infantile onset Clinical_modifier Moderately Informative fa HP:0011463 Childhood onset Clinical_modifier Informative fa HP:0003678 Rapidly progressive Clinical_modifier Informative fa HP:0003676 Progressive Clinical_modifier Highly Informative fa HP:0011008 Temporal pattern Clinical_modifier Highly Informative fa HP:0011462 Young adult onset Clinical_modifier Highly Informative fa HP:0003623 Neonatal onset Clinical_modifier Highly Informative fa HP:0003677 Slow progression Clinical_modifier Highly Informative fa HP:0011842 Abnormality of skeletal morphology Phenotypic_abnormality Least Informative fa HP:0001939 Abnormality of metabolism/homeostasis Phenotypic_abnormality Least Informative fa HP:0012639 Abnormality of nervous system morphology Phenotypic_abnormality Least Informative fa HP:0000271 Abnormality of the face Phenotypic_abnormality Least Informative fa HP:0000119 Abnormality of the genitourinary system Phenotypic_abnormality Least Informative fa HP:0012638 Abnormality of nervous system physiology Phenotypic_abnormality Least Informative fa HP:0001574 Abnormality of the integument Phenotypic_abnormality Least Informative fa HP:0001626 Abnormality of the cardiovascular system Phenotypic_abnormality Least Informative fa HP:0000478 Abnormality of the eye Phenotypic_abnormality Least Informative fa HP:0001438 Abnormality of the abdomen Phenotypic_abnormality Least Informative fa HP:0040064 Abnormality of limbs Phenotypic_abnormality Least Informative fa HP:0002715 Abnormality of the immune system Phenotypic_abnormality Least Informative fa HP:0003011 Abnormality of the musculature Phenotypic_abnormality Least Informative fa HP:0011277 Abnormality of the urinary system physiology Phenotypic_abnormality Moderately Informative fa HP:0001507 Growth abnormality Phenotypic_abnormality Moderately Informative fa HP:0002664 Neoplasm Phenotypic_abnormality Moderately Informative fa HP:0003549 Abnormality of connective tissue Phenotypic_abnormality Moderately Informative fa HP:0011446 Abnormality of higher mental function Phenotypic_abnormality Moderately Informative fa HP:0012243 Abnormal genital system morphology Phenotypic_abnormality Moderately Informative fa HP:0002088 Abnormality of the lung Phenotypic_abnormality Moderately Informative fa HP:0002817 Abnormality of the upper limb Phenotypic_abnormality Moderately Informative fa HP:0000366 Abnormality of the nose Phenotypic_abnormality Moderately Informative fa HP:0003808 Abnormal muscle tone Phenotypic_abnormality Moderately Informative fa HP:0000315 Abnormality of the orbital region Phenotypic_abnormality Moderately Informative fa HP:0012759 Neurodevelopmental abnormality Phenotypic_abnormality Moderately Informative fa HP:0011442 Abnormality of central motor function Phenotypic_abnormality Moderately Informative fa HP:0011138 Abnormality of skin adnexa Phenotypic_abnormality Moderately Informative fa HP:0000929 Abnormality of the skull Phenotypic_abnormality Moderately Informative fa HP:0011297 Abnormality of digit Phenotypic_abnormality Moderately Informative fa HP:0001367 Abnormal joint morphology Phenotypic_abnormality Moderately Informative fa HP:0001627 Abnormal heart morphology Phenotypic_abnormality Moderately Informative fa HP:0000598 Abnormality of the ear Phenotypic_abnormality Moderately Informative fa HP:0000818 Abnormality of the endocrine system Phenotypic_abnormality Moderately Informative fa HP:0002597 Abnormality of the vasculature Phenotypic_abnormality Moderately Informative fa HP:0010935 Abnormality of the upper urinary tract Phenotypic_abnormality Moderately Informative fa HP:0002814 Abnormality of the lower limb Phenotypic_abnormality Moderately Informative fa HP:0100547 Abnormality of forebrain morphology Phenotypic_abnormality Moderately Informative fa HP:0000708 Behavioral abnormality Phenotypic_abnormality Moderately Informative fa HP:0011354 Generalized abnormality of skin Phenotypic_abnormality Moderately Informative fa HP:0010978 Abnormality of immune system physiology Phenotypic_abnormality Moderately Informative fa HP:0001871 Abnormality of blood and blood-forming tissues Phenotypic_abnormality Moderately Informative fa HP:0000925 Abnormality of the vertebral column Phenotypic_abnormality Moderately Informative fa HP:0011025 Abnormality of cardiovascular system physiology Phenotypic_abnormality Moderately Informative fa HP:0012373 Abnormal eye physiology Phenotypic_abnormality Moderately Informative fa HP:0100022 Abnormality of movement Phenotypic_abnormality Moderately Informative fa HP:0004328 Abnormality of the anterior segment of the globe Phenotypic_abnormality Moderately Informative fa HP:0011024 Abnormality of the gastrointestinal tract Phenotypic_abnormality Moderately Informative fa HP:0000163 Abnormality of the oral cavity Phenotypic_abnormality Moderately Informative fa HP:0004360 Abnormality of acid-base homeostasis Phenotypic_abnormality Moderately Informative fa HP:0011355 Localized skin lesion Phenotypic_abnormality Moderately Informative fa HP:0001392 Abnormality of the liver Phenotypic_abnormality Moderately Informative fa HP:0001250 Seizures Phenotypic_abnormality Moderately Informative fa HP:0011805 Abnormality of muscle morphology Phenotypic_abnormality Moderately Informative fa HP:0000759 Abnormal peripheral nervous system morphology Phenotypic_abnormality Moderately Informative fa HP:0000123 Nephritis Phenotypic_abnormality Informative fa HP:0010938 Abnormality of the external nose Phenotypic_abnormality Informative fa HP:0009127 Abnormality of the musculature of the limbs Phenotypic_abnormality Informative fa HP:0100491 Abnormality of lower limb joint Phenotypic_abnormality Informative fa HP:0001780 Abnormality of toe Phenotypic_abnormality Informative fa HP:0004755 Supraventricular tachycardia Phenotypic_abnormality Informative fa HP:0011015 Abnormality of blood glucose concentration Phenotypic_abnormality Informative fa HP:0004325 Decreased body weight Phenotypic_abnormality Informative fa HP:0000504 Abnormality of vision Phenotypic_abnormality Informative fa HP:0001713 Abnormality of cardiac ventricle Phenotypic_abnormality Informative fa HP:0003271 Visceromegaly Phenotypic_abnormality Informative fa HP:0011017 Abnormality of cell physiology Phenotypic_abnormality Informative fa HP:0100790 Hernia Phenotypic_abnormality Informative fa HP:0012719 Functional abnormality of the gastrointestinal tract Phenotypic_abnormality Informative fa HP:0011947 Respiratory tract infection Phenotypic_abnormality Informative fa HP:0000035 Abnormality of the testis Phenotypic_abnormality Informative fa HP:0100851 Abnormal emotion/affect behavior Phenotypic_abnormality Informative fa HP:0000553 Abnormality of the uvea Phenotypic_abnormality Informative fa HP:0003701 Proximal muscle weakness Phenotypic_abnormality Informative fa HP:0002167 Neurological speech impairment Phenotypic_abnormality Informative fa HP:0003468 Abnormality of the vertebrae Phenotypic_abnormality Informative fa HP:0011004 Abnormality of the systemic arterial tree Phenotypic_abnormality Informative fa HP:0001671 Abnormality of the cardiac septa Phenotypic_abnormality Informative fa HP:0000479 Abnormality of the retina Phenotypic_abnormality Informative fa HP:0002644 Abnormality of pelvic girdle bone morphology Phenotypic_abnormality Informative fa HP:0000095 Abnormality of the glomerulus Phenotypic_abnormality Informative fa HP:0000969 Edema Phenotypic_abnormality Informative fa HP:0004354 Abnormality of carboxylic acid metabolism Phenotypic_abnormality Informative fa HP:0002683 Abnormality of the calvaria Phenotypic_abnormality Informative fa HP:0001646 Abnormality of the aortic valve Phenotypic_abnormality Informative fa HP:0000359 Abnormality of the inner ear Phenotypic_abnormality Informative fa HP:0012718 Morphological abnormality of the gastrointestinal tract Phenotypic_abnormality Informative fa HP:0011729 Abnormality of joint mobility Phenotypic_abnormality Informative fa HP:0000639 Nystagmus Phenotypic_abnormality Informative fa HP:0002087 Abnormality of the upper respiratory tract Phenotypic_abnormality Informative fa HP:0000365 Hearing impairment Phenotypic_abnormality Informative fa HP:0011276 Vascular skin abnormality Phenotypic_abnormality Informative fa HP:0000481 Abnormality of the cornea Phenotypic_abnormality Informative fa HP:0000002 Abnormality of body height Phenotypic_abnormality Informative fa HP:0001743 Abnormality of the spleen Phenotypic_abnormality Informative fa HP:0002795 Functional respiratory abnormality Phenotypic_abnormality Informative fa HP:0004372 Reduced consciousness/confusion Phenotypic_abnormality Informative fa HP:0010674 Abnormality of the curvature of the vertebral column Phenotypic_abnormality Informative fa HP:0004431 Complement deficiency Phenotypic_abnormality Informative fa HP:0100261 Abnormal tendon morphology Phenotypic_abnormality Informative fa HP:0000140 Abnormality of the menstrual cycle Phenotypic_abnormality Informative fa HP:0007364 Aplasia/Hypoplasia of the cerebrum Phenotypic_abnormality Informative fa HP:0000290 Abnormality of the forehead Phenotypic_abnormality Informative fa HP:0001872 Abnormality of thrombocytes Phenotypic_abnormality Informative fa HP:0004414 Abnormality of the pulmonary artery Phenotypic_abnormality Informative fa HP:0040070 Abnormality of upper limb bone Phenotypic_abnormality Informative fa HP:0011362 Abnormal hair quantity Phenotypic_abnormality Informative fa HP:0005105 Abnormal nasal morphology Phenotypic_abnormality Informative fa HP:0000600 Abnormality of the pharynx Phenotypic_abnormality Informative fa HP:0000080 Abnormality of reproductive system physiology Phenotypic_abnormality Informative fa HP:0001510 Growth delay Phenotypic_abnormality Informative fa HP:0045060 Aplasia/hypoplasia involving bones of the extremities Phenotypic_abnormality Informative fa HP:0001638 Cardiomyopathy Phenotypic_abnormality Informative fa HP:0000277 Abnormality of the mandible Phenotypic_abnormality Informative fa HP:0005561 Abnormality of bone marrow cell morphology Phenotypic_abnormality Informative fa HP:0000240 Abnormality of skull size Phenotypic_abnormality Informative fa HP:0000549 Abnormal conjugate eye movement Phenotypic_abnormality Informative fa HP:0011792 Neoplasm by histology Phenotypic_abnormality Informative fa HP:0001928 Abnormality of coagulation Phenotypic_abnormality Informative fa HP:0100037 Abnormality of the scalp hair Phenotypic_abnormality Informative fa HP:0001311 Abnormal nervous system electrophysiology Phenotypic_abnormality Informative fa HP:0000606 Abnormality of the periorbital region Phenotypic_abnormality Informative fa HP:0040069 Abnormality of lower limb bone Phenotypic_abnormality Informative fa HP:0000177 Abnormality of upper lip Phenotypic_abnormality Informative fa HP:0001999 Abnormal facial shape Phenotypic_abnormality Informative fa HP:0001197 Abnormality of prenatal development or birth Phenotypic_abnormality Informative fa HP:0011450 CNS infection Phenotypic_abnormality Informative fa HP:0001892 Abnormal bleeding Phenotypic_abnormality Informative fa HP:0011314 Abnormality of long bone morphology Phenotypic_abnormality Informative fa HP:0001263 Global developmental delay Phenotypic_abnormality Informative fa HP:0011028 Abnormality of blood circulation Phenotypic_abnormality Informative fa HP:0004298 Abnormality of the abdominal wall Phenotypic_abnormality Informative fa HP:0003111 Abnormality of ion homeostasis Phenotypic_abnormality Informative fa HP:0004297 Abnormality of the biliary system Phenotypic_abnormality Informative fa HP:0001005 Dermatological manifestations of systemic disorders Phenotypic_abnormality Informative fa HP:0003330 Abnormal bone structure Phenotypic_abnormality Informative fa HP:0001315 Reduced tendon reflexes Phenotypic_abnormality Informative fa HP:0004673 Decreased facial expression Phenotypic_abnormality Informative fa HP:0000517 Abnormality of the lens Phenotypic_abnormality Informative fa HP:0008056 Aplasia/Hypoplasia affecting the eye Phenotypic_abnormality Informative fa HP:0004332 Abnormality of lymphocytes Phenotypic_abnormality Informative fa HP:0010936 Abnormality of the lower urinary tract Phenotypic_abnormality Informative fa HP:0030236 Abnormality of muscle size Phenotypic_abnormality Informative fa HP:0011021 Abnormality of circulating enzyme level Phenotypic_abnormality Informative fa HP:0001317 Abnormality of the cerebellum Phenotypic_abnormality Informative fa HP:0006705 Abnormality of the atrioventricular valves Phenotypic_abnormality Informative fa HP:0011061 Abnormality of dental structure Phenotypic_abnormality Informative fa HP:0011843 Abnormality of skeletal physiology Phenotypic_abnormality Informative fa HP:0000130 Abnormality of the uterus Phenotypic_abnormality Informative fa HP:0000356 Abnormality of the outer ear Phenotypic_abnormality Informative fa HP:0012072 Aciduria Phenotypic_abnormality Informative fa HP:0009830 Peripheral neuropathy Phenotypic_abnormality Informative fa HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton Phenotypic_abnormality Informative fa HP:0004303 Abnormality of muscle fibers Phenotypic_abnormality Informative fa HP:0002725 Systemic lupus erythematosus Phenotypic_abnormality Informative fa HP:0001645 Sudden cardiac death Phenotypic_abnormality Informative fa HP:0008050 Abnormality of the palpebral fissures Phenotypic_abnormality Informative fa HP:0000765 Abnormality of the thorax Phenotypic_abnormality Informative fa HP:0011458 Abdominal symptom Phenotypic_abnormality Informative fa HP:0100543 Cognitive impairment Phenotypic_abnormality Informative fa HP:0005918 Abnormality of phalanx of finger Phenotypic_abnormality Informative fa HP:0001249 Intellectual disability Phenotypic_abnormality Informative fa HP:0011830 Abnormality of oral mucosa Phenotypic_abnormality Informative fa HP:0002493 Upper motor neuron dysfunction Phenotypic_abnormality Informative fa HP:0002719 Recurrent infections Phenotypic_abnormality Informative fa HP:0001000 Abnormality of skin pigmentation Phenotypic_abnormality Informative fa HP:0002197 Generalized seizures Phenotypic_abnormality Informative fa HP:0004375 Neoplasm of the nervous system Phenotypic_abnormality Informative fa HP:0001909 Leukemia Phenotypic_abnormality Informative fa HP:0010787 Genital neoplasm Phenotypic_abnormality Informative fa HP:0007550 Hypohidrosis or hyperhidrosis Phenotypic_abnormality Informative fa HP:0003128 Lactic acidosis Phenotypic_abnormality Informative fa HP:0000539 Abnormality of refraction Phenotypic_abnormality Informative fa HP:0011122 Abnormality of skin physiology Phenotypic_abnormality Informative fa HP:0004305 Involuntary movements Phenotypic_abnormality Informative fa HP:0001977 Abnormal thrombosis Phenotypic_abnormality Informative fa HP:0011733 Abnormality of adrenal physiology Phenotypic_abnormality Informative fa HP:0000137 Abnormality of the ovary Phenotypic_abnormality Informative fa HP:0011361 Congenital abnormal hair pattern Phenotypic_abnormality Informative fa HP:0003560 Muscular dystrophy Phenotypic_abnormality Informative fa HP:0011356 Regional abnormality of skin Phenotypic_abnormality Informative fa HP:0000306 Abnormality of the chin Phenotypic_abnormality Informative fa HP:0001172 Abnormality of the thumb Phenotypic_abnormality Informative fa HP:0100886 Abnormality of globe location Phenotypic_abnormality Informative fa HP:0011927 Short digit Phenotypic_abnormality Informative fa HP:0000769 Abnormality of the breast Phenotypic_abnormality Informative fa HP:0003119 Abnormality of lipid metabolism Phenotypic_abnormality Informative fa HP:0001288 Gait disturbance Phenotypic_abnormality Informative fa HP:0000422 Abnormality of the nasal bridge Phenotypic_abnormality Informative fa HP:0006482 Abnormality of dental morphology Phenotypic_abnormality Informative fa HP:0003117 Abnormality of circulating hormone level Phenotypic_abnormality Informative fa HP:0001608 Abnormality of the voice Phenotypic_abnormality Informative fa HP:0001597 Abnormality of the nail Phenotypic_abnormality Informative fa HP:0004370 Abnormality of temperature regulation Phenotypic_abnormality Informative fa HP:0011119 Abnormality of the nasal dorsum Phenotypic_abnormality Highly Informative fa HP:0002240 Hepatomegaly Phenotypic_abnormality Highly Informative fa HP:0003457 EMG abnormality Phenotypic_abnormality Highly Informative fa HP:0001787 Abnormal delivery Phenotypic_abnormality Highly Informative fa HP:0001437 Abnormality of the musculature of the lower limbs Phenotypic_abnormality Highly Informative fa HP:0011198 EEG with generalized epileptiform discharges Phenotypic_abnormality Highly Informative fa HP:0000225 Gingival bleeding Phenotypic_abnormality Highly Informative fa HP:0003691 Scapular winging Phenotypic_abnormality Highly Informative fa HP:0002837 Recurrent bronchitis Phenotypic_abnormality Highly Informative fa HP:0008777 Abnormality of the vocal cords Phenotypic_abnormality Highly Informative fa HP:0002747 Respiratory insufficiency due to muscle weakness Phenotypic_abnormality Highly Informative fa HP:0006292 Abnormality of dental eruption Phenotypic_abnormality Highly Informative fa HP:0000952 Jaundice Phenotypic_abnormality Highly Informative fa HP:0000431 Wide nasal bridge Phenotypic_abnormality Highly Informative fa HP:0004936 Venous thrombosis Phenotypic_abnormality Highly Informative fa HP:0011357 Abnormality of hair density Phenotypic_abnormality Highly Informative fa HP:0000174 Abnormality of the palate Phenotypic_abnormality Highly Informative fa HP:0011994 Abnormality of the atrial septum Phenotypic_abnormality Highly Informative fa HP:0010719 Abnormality of hair texture Phenotypic_abnormality Highly Informative fa HP:0001643 Patent ductus arteriosus Phenotypic_abnormality Highly Informative fa HP:0002750 Delayed skeletal maturation Phenotypic_abnormality Highly Informative fa HP:0001337 Tremor Phenotypic_abnormality Highly Informative fa HP:0001373 Joint dislocation Phenotypic_abnormality Highly Informative fa HP:0001653 Mitral regurgitation Phenotypic_abnormality Highly Informative fa HP:0000529 Progressive visual loss Phenotypic_abnormality Highly Informative fa HP:0002242 Abnormality of the intestine Phenotypic_abnormality Highly Informative fa HP:0002219 Facial hypertrichosis Phenotypic_abnormality Highly Informative fa HP:0000545 Myopia Phenotypic_abnormality Highly Informative fa HP:0003355 Aminoaciduria Phenotypic_abnormality Highly Informative fa HP:0005930 Abnormality of epiphysis morphology Phenotypic_abnormality Highly Informative fa HP:0001961 Hypoplastic heart Phenotypic_abnormality Highly Informative fa HP:0000751 Personality changes Phenotypic_abnormality Highly Informative fa HP:0001347 Hyperreflexia Phenotypic_abnormality Highly Informative fa HP:0003326 Myalgia Phenotypic_abnormality Highly Informative fa HP:0003016 Metaphyseal widening Phenotypic_abnormality Highly Informative fa HP:0000712 Emotional lability Phenotypic_abnormality Highly Informative fa HP:0007359 Focal seizures Phenotypic_abnormality Highly Informative fa HP:0001220 Interphalangeal joint contracture of finger Phenotypic_abnormality Highly Informative fa HP:0003287 Abnormality of mitochondrial metabolism Phenotypic_abnormality Highly Informative fa HP:0011895 Anemia due to reduced life span of red cells Phenotypic_abnormality Highly Informative fa HP:0011006 Abnormality of the musculature of the neck Phenotypic_abnormality Highly Informative fa HP:0012590 Abnormal urine output Phenotypic_abnormality Highly Informative fa HP:0000786 Primary amenorrhea Phenotypic_abnormality Highly Informative fa HP:0001141 Severe visual impairment Phenotypic_abnormality Highly Informative fa HP:0002118 Abnormality of the cerebral ventricles Phenotypic_abnormality Highly Informative fa HP:0001103 Abnormality of the macula Phenotypic_abnormality Highly Informative fa HP:0011337 Abnormality of mouth size Phenotypic_abnormality Highly Informative fa HP:0000775 Abnormality of the diaphragm Phenotypic_abnormality Highly Informative fa HP:0000587 Abnormality of the optic nerve Phenotypic_abnormality Highly Informative fa HP:0000974 Hyperextensible skin Phenotypic_abnormality Highly Informative fa HP:0200020 Corneal erosion Phenotypic_abnormality Highly Informative fa HP:0000023 Inguinal hernia Phenotypic_abnormality Highly Informative fa HP:0002815 Abnormality of the knees Phenotypic_abnormality Highly Informative fa HP:0000512 Abnormal electroretinogram Phenotypic_abnormality Highly Informative fa HP:0001251 Ataxia Phenotypic_abnormality Highly Informative fa HP:0002823 Abnormality of the femur Phenotypic_abnormality Highly Informative fa HP:0001384 Abnormality of the hip joint Phenotypic_abnormality Highly Informative fa HP:0003394 Muscle cramps Phenotypic_abnormality Highly Informative fa HP:0011338 Abnormality of mouth shape Phenotypic_abnormality Highly Informative fa HP:0011304 Broad thumb Phenotypic_abnormality Highly Informative fa HP:0100533 Inflammatory abnormality of the eye Phenotypic_abnormality Highly Informative fa HP:0000964 Eczema Phenotypic_abnormality Highly Informative fa HP:0000135 Hypogonadism Phenotypic_abnormality Highly Informative fa HP:0001547 Abnormality of the rib cage Phenotypic_abnormality Highly Informative fa HP:0002098 Respiratory distress Phenotypic_abnormality Highly Informative fa HP:0000763 Sensory neuropathy Phenotypic_abnormality Highly Informative fa HP:0002354 Memory impairment Phenotypic_abnormality Highly Informative fa HP:0002373 Febrile seizures Phenotypic_abnormality Highly Informative fa HP:0003474 Sensory impairment Phenotypic_abnormality Highly Informative fa HP:0002360 Sleep disturbance Phenotypic_abnormality Highly Informative fa HP:0001270 Motor delay Phenotypic_abnormality Highly Informative fa HP:0001732 Abnormality of the pancreas Phenotypic_abnormality Highly Informative fa HP:0002733 Abnormality of the lymph nodes Phenotypic_abnormality Highly Informative fa HP:0007417 Discoid lupus erythematosus Phenotypic_abnormality Highly Informative fa HP:0010785 Gonadal neoplasm Phenotypic_abnormality Highly Informative fa HP:0200006 Slanting of the palpebral fissure Phenotypic_abnormality Highly Informative fa HP:0001265 Hyporeflexia Phenotypic_abnormality Highly Informative fa HP:0007400 Irregular hyperpigmentation Phenotypic_abnormality Highly Informative fa HP:0011968 Feeding difficulties Phenotypic_abnormality Highly Informative fa HP:0012732 Anorectal anomaly Phenotypic_abnormality Highly Informative fa HP:0003202 Skeletal muscle atrophy Phenotypic_abnormality Highly Informative fa HP:0002069 Generalized tonic-clonic seizures Phenotypic_abnormality Highly Informative fa HP:0003324 Generalized muscle weakness Phenotypic_abnormality Highly Informative fa HP:0000975 Hyperhidrosis Phenotypic_abnormality Highly Informative fa HP:0008065 Aplasia/Hypoplasia of the skin Phenotypic_abnormality Highly Informative fa HP:0001987 Hyperammonemia Phenotypic_abnormality Highly Informative fa HP:0001397 Hepatic steatosis Phenotypic_abnormality Highly Informative fa HP:0003319 Abnormality of the cervical spine Phenotypic_abnormality Highly Informative fa HP:0011747 Abnormality of the anterior pituitary Phenotypic_abnormality Highly Informative fa HP:0005922 Abnormal hand morphology Phenotypic_abnormality Highly Informative fa HP:0001969 Tubulointerstitial abnormality Phenotypic_abnormality Highly Informative fa HP:0000383 Abnormality of periauricular region Phenotypic_abnormality Highly Informative fa HP:0000014 Abnormality of the bladder Phenotypic_abnormality Highly Informative fa HP:0007375 Abnormality of the septum pellucidum Phenotypic_abnormality Highly Informative fa HP:0001369 Arthritis Phenotypic_abnormality Highly Informative fa HP:0004363 Abnormality of calcium homeostasis Phenotypic_abnormality Highly Informative fa HP:0006265 Aplasia/Hypoplasia of fingers Phenotypic_abnormality Highly Informative fa HP:0000518 Cataract Phenotypic_abnormality Highly Informative fa HP:0000421 Epistaxis Phenotypic_abnormality Highly Informative fa HP:0011339 Abnormality of upper lip vermillion Phenotypic_abnormality Highly Informative fa HP:0000448 Prominent nose Phenotypic_abnormality Highly Informative fa HP:0012043 Pendular nystagmus Phenotypic_abnormality Highly Informative fa HP:0004447 Poikilocytosis Phenotypic_abnormality Highly Informative fa HP:0000157 Abnormality of the tongue Phenotypic_abnormality Highly Informative fa HP:0000377 Abnormality of the pinna Phenotypic_abnormality Highly Informative fa HP:0002538 Abnormality of the cerebral cortex Phenotypic_abnormality Highly Informative fa HP:0100836 Malignant neoplasm of the central nervous system Phenotypic_abnormality Highly Informative fa HP:0001832 Abnormality of the metatarsal bones Phenotypic_abnormality Highly Informative fa HP:0100659 Abnormality of the cerebral vasculature Phenotypic_abnormality Highly Informative fa HP:0010701 Abnormal immunoglobulin level Phenotypic_abnormality Highly Informative fa HP:0003764 Nevus Phenotypic_abnormality Highly Informative fa HP:0001080 Biliary tract abnormality Phenotypic_abnormality Highly Informative fa HP:0002804 Arthrogryposis multiplex congenita Phenotypic_abnormality Highly Informative fa HP:0004408 Abnormality of the sense of smell Phenotypic_abnormality Highly Informative fa HP:0000987 Atypical scarring of skin Phenotypic_abnormality Highly Informative fa HP:0002577 Abnormality of the stomach Phenotypic_abnormality Highly Informative fa HP:0000589 Coloboma Phenotypic_abnormality Highly Informative fa HP:0000859 Hyperaldosteronism Phenotypic_abnormality Highly Informative fa HP:0003325 Limb-girdle muscle weakness Phenotypic_abnormality Highly Informative fa HP:0002808 Kyphosis Phenotypic_abnormality Highly Informative fa HP:0002492 Abnormality of the corticospinal tract Phenotypic_abnormality Highly Informative fa HP:0001083 Ectopia lentis Phenotypic_abnormality Highly Informative fa HP:0002438 Cerebellar malformation Phenotypic_abnormality Highly Informative fa HP:0011329 Abnormality of cranial sutures Phenotypic_abnormality Highly Informative fa HP:0001824 Weight loss Phenotypic_abnormality Highly Informative fa HP:0200120 Chronic active hepatitis Phenotypic_abnormality Highly Informative fa HP:0002031 Abnormality of the esophagus Phenotypic_abnormality Highly Informative fa HP:0000275 Narrow face Phenotypic_abnormality Highly Informative fa HP:0006919 Abnormal aggressive, impulsive or violent behavior Phenotypic_abnormality Highly Informative fa HP:0012614 Abnormal urine cytology Phenotypic_abnormality Highly Informative fa HP:0007367 Atrophy/Degeneration affecting the central nervous system Phenotypic_abnormality Highly Informative fa HP:0006261 Abnormality of phalangeal joints of the hand Phenotypic_abnormality Highly Informative fa HP:0005430 Recurrent Neisserial infections Phenotypic_abnormality Highly Informative fa HP:0001991 Aplasia/Hypoplasia of toe Phenotypic_abnormality Highly Informative fa HP:0003130 Abnormal peripheral myelination Phenotypic_abnormality Highly Informative fa HP:0006671 Paroxysmal atrial tachycardia Phenotypic_abnormality Highly Informative fa HP:0011390 Morphological abnormality of the inner ear Phenotypic_abnormality Highly Informative fa HP:0001724 Aortic dilatation Phenotypic_abnormality Highly Informative fa HP:0001009 Telangiectasia Phenotypic_abnormality Highly Informative fa HP:0002376 Developmental regression Phenotypic_abnormality Highly Informative fa HP:0002013 Vomiting Phenotypic_abnormality Highly Informative fa HP:0000846 Adrenal insufficiency Phenotypic_abnormality Highly Informative fa HP:0002647 Aortic dissection Phenotypic_abnormality Highly Informative fa HP:0000574 Thick eyebrow Phenotypic_abnormality Highly Informative fa HP:0011065 Conical incisor Phenotypic_abnormality Highly Informative fa HP:0000662 Nyctalopia Phenotypic_abnormality Highly Informative fa HP:0002110 Bronchiectasis Phenotypic_abnormality Highly Informative fa HP:0001727 Thromboembolic stroke Phenotypic_abnormality Highly Informative fa HP:0009756 Popliteal pterygium Phenotypic_abnormality Highly Informative fa HP:0007759 Opacification of the corneal stroma Phenotypic_abnormality Highly Informative fa HP:0000144 Decreased fertility Phenotypic_abnormality Highly Informative fa HP:0001618 Dysphonia Phenotypic_abnormality Highly Informative fa HP:0001332 Dystonia Phenotypic_abnormality Highly Informative fa HP:0008404 Nail dystrophy Phenotypic_abnormality Highly Informative fa HP:0030760 Renal fibrosis Phenotypic_abnormality Highly Informative fa HP:0003215 Dicarboxylic aciduria Phenotypic_abnormality Highly Informative fa HP:0001844 Abnormality of the hallux Phenotypic_abnormality Highly Informative fa HP:0000343 Long philtrum Phenotypic_abnormality Highly Informative fa HP:0000613 Photophobia Phenotypic_abnormality Highly Informative fa HP:0001945 Fever Phenotypic_abnormality Highly Informative fa HP:0002754 Osteomyelitis Phenotypic_abnormality Highly Informative fa HP:0000331 Short chin Phenotypic_abnormality Highly Informative fa HP:0004841 Reduced factor XII activity Phenotypic_abnormality Highly Informative fa HP:0000045 Abnormality of the scrotum Phenotypic_abnormality Highly Informative fa HP:0012591 Abnormal urinary electrolyte concentration Phenotypic_abnormality Highly Informative fa HP:0008209 Premature ovarian failure Phenotypic_abnormality Highly Informative fa HP:0000847 Abnormality of renin-angiotensin system Phenotypic_abnormality Highly Informative fa HP:0000388 Otitis media Phenotypic_abnormality Highly Informative fa HP:0003388 Easy fatigability Phenotypic_abnormality Highly Informative fa HP:0001040 Multiple pterygia Phenotypic_abnormality Highly Informative fa HP:0010468 Aplasia/Hypoplasia of the testes Phenotypic_abnormality Highly Informative fa HP:0009803 Short phalanx of finger Phenotypic_abnormality Highly Informative fa HP:0008020 Progressive cone degeneration Phenotypic_abnormality Highly Informative fa HP:0003443 Decreased size of nerve terminals Phenotypic_abnormality Highly Informative fa HP:0006946 Recurrent meningitis Phenotypic_abnormality Highly Informative fa HP:0000682 Abnormality of dental enamel Phenotypic_abnormality Highly Informative fa HP:0003781 Excessive salivation Phenotypic_abnormality Highly Informative fa HP:0002621 Atherosclerosis Phenotypic_abnormality Highly Informative fa HP:0001541 Ascites Phenotypic_abnormality Highly Informative fa HP:0030082 Abnormal drinking behavior Phenotypic_abnormality Highly Informative fa HP:0002047 Malignant hyperthermia Phenotypic_abnormality Highly Informative fa HP:0002900 Hypokalemia Phenotypic_abnormality Highly Informative fa HP:0000429 Abnormality of the nasal alae Phenotypic_abnormality Highly Informative fa HP:0000678 Dental crowding Phenotypic_abnormality Highly Informative fa HP:0100299 Muscle fiber inclusion bodies Phenotypic_abnormality Highly Informative fa HP:0006957 Loss of ability to walk Phenotypic_abnormality Highly Informative fa HP:0005261 Joint hemorrhage Phenotypic_abnormality Highly Informative fa HP:0002948 Vertebral fusion Phenotypic_abnormality Highly Informative fa HP:0002321 Vertigo Phenotypic_abnormality Highly Informative fa HP:0001382 Joint hypermobility Phenotypic_abnormality Highly Informative fa HP:0000745 Diminished motivation Phenotypic_abnormality Highly Informative fa HP:0002305 Athetosis Phenotypic_abnormality Highly Informative fa HP:0011146 Dialeptic seizures Phenotypic_abnormality Highly Informative fa HP:0002672 Gastrointestinal carcinoma Phenotypic_abnormality Highly Informative fa HP:0002374 Diminished movement Phenotypic_abnormality Highly Informative fa HP:0000734 Disinhibition Phenotypic_abnormality Highly Informative fa HP:0011799 Abnormality of facial soft tissue Phenotypic_abnormality Highly Informative fa HP:0002633 Vasculitis Phenotypic_abnormality Highly Informative fa HP:0002882 Sudden episodic apnea Phenotypic_abnormality Highly Informative fa HP:0012223 Splenic rupture Phenotypic_abnormality Highly Informative fa HP:0002380 Fasciculations Phenotypic_abnormality Highly Informative fa HP:0001761 Pes cavus Phenotypic_abnormality Highly Informative fa HP:0002269 Abnormality of neuronal migration Phenotypic_abnormality Highly Informative fa HP:0003634 Amyoplasia Phenotypic_abnormality Highly Informative fa HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye Phenotypic_abnormality Highly Informative fa HP:0000750 Delayed speech and language development Phenotypic_abnormality Highly Informative fa HP:0002113 Pulmonary infiltrates Phenotypic_abnormality Highly Informative fa HP:0002145 Frontotemporal dementia Phenotypic_abnormality Highly Informative fa HP:0006802 Abnormal anterior horn cell morphology Phenotypic_abnormality Highly Informative fa HP:0000502 Abnormality of the conjunctiva Phenotypic_abnormality Highly Informative fa HP:0000978 Bruising susceptibility Phenotypic_abnormality Highly Informative fa HP:0011026 Aplasia/Hypoplasia of the vagina Phenotypic_abnormality Highly Informative fa HP:0003768 Periodic paralysis Phenotypic_abnormality Highly Informative fa HP:0003198 Myopathy Phenotypic_abnormality Highly Informative fa HP:0001259 Coma Phenotypic_abnormality Highly Informative fa HP:0001874 Abnormality of neutrophils Phenotypic_abnormality Highly Informative fa HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction Phenotypic_abnormality Highly Informative fa HP:0009726 Renal neoplasm Phenotypic_abnormality Highly Informative fa HP:0000010 Recurrent urinary tract infections Phenotypic_abnormality Highly Informative fa HP:0030177 Abnormality of peripheral nervous system electrophysiology Phenotypic_abnormality Highly Informative fa HP:0000618 Blindness Phenotypic_abnormality Highly Informative fa HP:0005120 Abnormality of cardiac atrium Phenotypic_abnormality Highly Informative fa HP:0100658 Cellulitis Phenotypic_abnormality Highly Informative fa HP:0000245 Abnormality of the paranasal sinuses Phenotypic_abnormality Highly Informative fa HP:0002877 Nocturnal hypoventilation Phenotypic_abnormality Highly Informative fa HP:0003436 Prolonged miniature endplate currents Phenotypic_abnormality Highly Informative fa HP:0012368 Flat face Phenotypic_abnormality Highly Informative fa HP:0001723 Restrictive cardiomyopathy Phenotypic_abnormality Highly Informative fa HP:0003805 Rimmed vacuoles Phenotypic_abnormality Highly Informative fa HP:0030448 Soft tissue sarcoma Phenotypic_abnormality Highly Informative fa HP:0003774 Stage 5 chronic kidney disease Phenotypic_abnormality Highly Informative fa HP:0007362 Aplasia/Hypoplasia of the brainstem Phenotypic_abnormality Highly Informative fa HP:0001513 Obesity Phenotypic_abnormality Highly Informative fa HP:0003155 Elevated alkaline phosphatase Phenotypic_abnormality Highly Informative fa HP:0001789 Hydrops fetalis Phenotypic_abnormality Highly Informative fa HP:0000311 Round face Phenotypic_abnormality Highly Informative fa HP:0012209 Juvenile myelomonocytic leukemia Phenotypic_abnormality Highly Informative fa HP:0000544 External ophthalmoplegia Phenotypic_abnormality Highly Informative fa HP:0010546 Muscle fibrillation Phenotypic_abnormality Highly Informative fa HP:0002818 Abnormality of the radius Phenotypic_abnormality Highly Informative fa HP:0000548 Cone/cone-rod dystrophy Phenotypic_abnormality Highly Informative fa HP:0004756 Ventricular tachycardia Phenotypic_abnormality Highly Informative fa HP:0200007 Abnormal size of the palpebral fissures Phenotypic_abnormality Highly Informative fa HP:0002921 Abnormality of the cerebrospinal fluid Phenotypic_abnormality Highly Informative fa HP:0002103 Abnormality of the pleura Phenotypic_abnormality Highly Informative fa HP:0002300 Mutism Phenotypic_abnormality Highly Informative fa HP:0010451 Aplasia/Hypoplasia of the spleen Phenotypic_abnormality Highly Informative fa HP:0007703 Abnormality of retinal pigmentation Phenotypic_abnormality Highly Informative fa HP:0002460 Distal muscle weakness Phenotypic_abnormality Highly Informative fa HP:0004796 Gastrointestinal obstruction Phenotypic_abnormality Highly Informative fa HP:0002123 Generalized myoclonic seizures Phenotypic_abnormality Highly Informative fa HP:0007018 Attention deficit hyperactivity disorder Phenotypic_abnormality Highly Informative fa HP:0010549 Weakness due to upper motor neuron dysfunction Phenotypic_abnormality Highly Informative fa HP:0007663 Reduced visual acuity Phenotypic_abnormality Highly Informative fa HP:0004404 Abnormality of the nipple Phenotypic_abnormality Highly Informative fa HP:0001004 Lymphedema Phenotypic_abnormality Highly Informative fa HP:0000666 Horizontal nystagmus Phenotypic_abnormality Highly Informative fa HP:0002463 Language impairment Phenotypic_abnormality Highly Informative fa HP:0003473 Fatigable weakness Phenotypic_abnormality Highly Informative fa HP:0000957 Cafe-au-lait spot Phenotypic_abnormality Highly Informative fa HP:0001291 Abnormality of the cranial nerves Phenotypic_abnormality Highly Informative fa HP:0001612 Weak cry Phenotypic_abnormality Highly Informative fa HP:0010566 Hamartoma Phenotypic_abnormality Highly Informative fa HP:0012266 T-wave alternans Phenotypic_abnormality Highly Informative fa HP:0011409 Abnormality of placental membranes Phenotypic_abnormality Highly Informative fa HP:0040211 Abnormality of the skin of the palm Phenotypic_abnormality Highly Informative fa HP:0003323 Progressive muscle weakness Phenotypic_abnormality Highly Informative fa HP:0003010 Prolonged bleeding time Phenotypic_abnormality Highly Informative fa HP:0000054 Micropenis Phenotypic_abnormality Highly Informative fa HP:0030065 Primitive neuroectodermal tumor Phenotypic_abnormality Highly Informative fa HP:0002366 Abnormal lower motor neuron morphology Phenotypic_abnormality Highly Informative fa HP:0001508 Failure to thrive Phenotypic_abnormality Highly Informative fa HP:0000233 Thin vermilion border Phenotypic_abnormality Highly Informative fa HP:0001386 Joint swelling Phenotypic_abnormality Highly Informative fa HP:0002872 Apneic episodes precipitated by illness, fatigue, stress Phenotypic_abnormality Highly Informative fa HP:0011898 Abnormality of circulating fibrinogen Phenotypic_abnormality Highly Informative fa HP:0003002 Breast carcinoma Phenotypic_abnormality Highly Informative fa HP:0002133 Status epilepticus Phenotypic_abnormality Highly Informative fa HP:0008034 Abnormal iris pigmentation Phenotypic_abnormality Highly Informative fa HP:0000276 Long face Phenotypic_abnormality Highly Informative fa HP:0002200 Pseudobulbar signs Phenotypic_abnormality Highly Informative fa HP:0002014 Diarrhea Phenotypic_abnormality Highly Informative fa HP:0000729 Autistic behavior Phenotypic_abnormality Highly Informative fa HP:0010767 Sacrococcygeal pilonidal abnormality Phenotypic_abnormality Highly Informative fa HP:0001882 Leukopenia Phenotypic_abnormality Highly Informative fa HP:0010301 Spinal dysraphism Phenotypic_abnormality Highly Informative fa HP:0003312 Abnormal form of the vertebral bodies Phenotypic_abnormality Highly Informative fa HP:0001609 Hoarse voice Phenotypic_abnormality Highly Informative fa HP:0002483 Bulbar signs Phenotypic_abnormality Highly Informative fa HP:0000541 Retinal detachment Phenotypic_abnormality Highly Informative fa HP:0001762 Talipes equinovarus Phenotypic_abnormality Highly Informative fa HP:0001962 Palpitations Phenotypic_abnormality Highly Informative fa HP:0008357 Reduced factor XIII activity Phenotypic_abnormality Highly Informative fa HP:0001322 Brain very small Phenotypic_abnormality Highly Informative fa HP:0000027 Azoospermia Phenotypic_abnormality Highly Informative fa HP:0008057 Aplasia/Hypoplasia affecting the fundus Phenotypic_abnormality Highly Informative fa HP:0000280 Coarse facial features Phenotypic_abnormality Highly Informative fa HP:0000096 Glomerulosclerosis Phenotypic_abnormality Highly Informative fa HP:0001257 Spasticity Phenotypic_abnormality Highly Informative fa HP:0000360 Tinnitus Phenotypic_abnormality Highly Informative fa HP:0030223 Perseveration Phenotypic_abnormality Highly Informative fa HP:0000795 Abnormality of the urethra Phenotypic_abnormality Highly Informative fa HP:0100276 Skin pit Phenotypic_abnormality Highly Informative fa HP:0002151 Increased serum lactate Phenotypic_abnormality Highly Informative fa HP:0100833 Neoplasm of the small intestine Phenotypic_abnormality Highly Informative fa HP:0012385 Camptodactyly Phenotypic_abnormality Highly Informative fa HP:0008897 Postnatal growth retardation Phenotypic_abnormality Highly Informative fa HP:0100578 Lipoatrophy Phenotypic_abnormality Highly Informative fa HP:0009484 Deviation of the hand or of fingers of the hand Phenotypic_abnormality Highly Informative fa HP:0003391 Gowers sign Phenotypic_abnormality Highly Informative fa HP:0001006 Hypotrichosis Phenotypic_abnormality Highly Informative fa HP:0002835 Aspiration Phenotypic_abnormality Highly Informative fa HP:0004808 Acute myeloid leukemia Phenotypic_abnormality Highly Informative fa HP:0010895 Abnormality of glycine metabolism Phenotypic_abnormality Highly Informative fa HP:0000767 Pectus excavatum Phenotypic_abnormality Highly Informative fa HP:0003402 Decreased miniature endplate potentials Phenotypic_abnormality Highly Informative fa HP:0001511 Intrauterine growth retardation Phenotypic_abnormality Highly Informative fa HP:0010967 Abnormality of carnitine metabolism Phenotypic_abnormality Highly Informative fa HP:0003487 Babinski sign Phenotypic_abnormality Highly Informative fa HP:0000966 Hypohidrosis Phenotypic_abnormality Highly Informative fa HP:0003554 Type 2 muscle fiber atrophy Phenotypic_abnormality Highly Informative fa HP:0001131 Corneal dystrophy Phenotypic_abnormality Highly Informative fa HP:0003199 Decreased muscle mass Phenotypic_abnormality Highly Informative fa HP:0001873 Thrombocytopenia Phenotypic_abnormality Highly Informative fa HP:0000568 Microphthalmia Phenotypic_abnormality Highly Informative fa HP:0001712 Left ventricular hypertrophy Phenotypic_abnormality Highly Informative fa HP:0009890 High anterior hairline Phenotypic_abnormality Highly Informative fa HP:0008066 Abnormal blistering of the skin Phenotypic_abnormality Highly Informative fa HP:0008180 Mildly elevated creatine phosphokinase Phenotypic_abnormality Highly Informative fa HP:0012114 Endometrial carcinoma Phenotypic_abnormality Highly Informative fa HP:0000486 Strabismus Phenotypic_abnormality Highly Informative fa HP:0001284 Areflexia Phenotypic_abnormality Highly Informative fa HP:0002650 Scoliosis Phenotypic_abnormality Highly Informative fa HP:0000028 Cryptorchidism Phenotypic_abnormality Highly Informative fa HP:0000670 Carious teeth Phenotypic_abnormality Highly Informative fa HP:0001678 Atrioventricular block Phenotypic_abnormality Highly Informative fa HP:0002239 Gastrointestinal hemorrhage Phenotypic_abnormality Highly Informative fa HP:0001283 Bulbar palsy Phenotypic_abnormality Highly Informative fa HP:0001644 Dilated cardiomyopathy Phenotypic_abnormality Highly Informative fa HP:0001558 Decreased fetal movement Phenotypic_abnormality Highly Informative fa HP:0005180 Tricuspid regurgitation Phenotypic_abnormality Highly Informative fa HP:0004349 Reduced bone mineral density Phenotypic_abnormality Highly Informative fa HP:0000252 Microcephaly Phenotypic_abnormality Highly Informative fa HP:0007641 Dyschromatopsia Phenotypic_abnormality Highly Informative fa HP:0000793 Membranoproliferative glomerulonephritis Phenotypic_abnormality Highly Informative fa HP:0000962 Hyperkeratosis Phenotypic_abnormality Highly Informative fa HP:0001260 Dysarthria Phenotypic_abnormality Highly Informative fa HP:0000819 Diabetes mellitus Phenotypic_abnormality Highly Informative fa HP:0001647 Bicuspid aortic valve Phenotypic_abnormality Highly Informative fa HP:0000499 Abnormality of the eyelashes Phenotypic_abnormality Highly Informative fa HP:0000202 Oral cleft Phenotypic_abnormality Highly Informative