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TheJacksonLaboratory / HPOworkbench

Human Phenotype Ontology Workbench
http://hpo-workbench.readthedocs.io/en/latest/
BSD 3-Clause "New" or "Revised" License
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Modifiers-- transfer these from the Description to the new Modifier field #10

Closed pnrobinson closed 6 years ago

pnrobinson commented 6 years ago

MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > QUADRIPLEGIA, EPISODIC MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COMMUNICATING HYDROCEPHALUS, PROGRESSIVE MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL ASYMMETRY (MILD) MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD MODIFIER:SEVERE;OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY, SEVERE MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, MILD MODIFIER:SEVERE;OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > DYSMENORRHEA, SEVERE MODIFIER:MODERATE;OMIM-CS:skeletalpelvis > FEMORAL HYPOPLASIA, MODERATE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPEECH DELAY, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL MUSCLE WEAKNESS, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EXTRAPYRAMIDAL SIGNS, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR, MILD MODIFIER:MODERATE;OMIM-CS:headandneckeyes > MYOPIA, MODERATE MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, PROXIMAL MODIFIER:DISTAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, DISTAL MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL MODIFIER:MILD;OMIM-CS:SKELETAL_SPINE > LUMBAR LORDOSIS, MILD MODIFIER:MILD;OMIM-CS:HEMATOLOGY > ANEMIA, MILD MODIFIER:CHRONIC;OMIM-CS:GENITOURINARY_KIDNEYS > NEPHRITIS, CHRONIC MODIFIER:DISTAL;OMIM-CS:LIMBS > ARTHROGRYPOSIS, DISTAL MODIFIER:DISTAL;OMIM-CS:JOINTS > ARTHROGRYPOSIS, DISTAL MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION, SEVERE MODIFIER:BILATERAL;OMIM-CS:SKELETAL_FEET > BROAD HALLUX, BILATERAL MODIFIER:BILATERAL;OMIM-CS:SKELETAL_FEET > BROAD HALLUX, BILATERAL MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_MOUTH > MICROGNATHIA, MILD MODIFIER:MILD;OMIM-CS:CARDIOVASCULAR_HEART > AORTIC STENOSIS, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > PECTUS EXCAVATUM, MILD MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENCEPHALOPATHY, EPISODIC MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > METHYLMALONIC ACIDURIA, MILD MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, PROFOUND MODIFIER:PROGRESSIVE;OMIM-CS:SKELETAL > JOINT STIFFNESS, PROGRESSIVE MODIFIER:PROGRESSIVE;OMIM-CS:SKELETAL > CONTRACTURES, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:RESPIRATORY > ABSENCE OF SPONTANEOUS RESPIRATION (SEVERE FORM) MODIFIER:SEVERE;OMIM-CS:SKELETAL > ARTHROGRYPOSIS (SEVERE FORM) MODIFIER:SEVERE;OMIM-CS:SKELETAL_FEET > TOE CONTRACTURES, SEVERE MODIFIER:SEVERE;OMIM-CS:SKELETAL_HANDS > FINGER CONTRACTURES, SEVERE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, MILD MODIFIER:SEVERE;OMIM-CS:SKEL > SEVERE OSTEOPETROSIS MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, SEVERE MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > APNEA, EPISODIC MODIFIER:EPISODIC;OMIM-CS:HEME > EPISODIC NEUTROPENIA MODIFIER:MILD;OMIM-CS:HEAD AND NECK_MOUTH > PROGNATHISM, MILD MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_MOUTH > DENTAL CARIES, SEVERE MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL DYSMORPHISM, MILD MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NEURODEGENERATION, PROGRESSIVE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WASTING, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALMOPLANTAR HYPERKERATOSIS, SEVERE MODIFIER:MILD;OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOSPADIAS, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, MILD MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCULAR HYPOTONIA, SEVERE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, PROFOUND MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL NEUROPATHY, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE MODIFIER:CHRONIC;OMIM-CS:ABDOMEN_LIVER > CHRONIC HEPATITIS MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE, PROFOUND MODIFIER:MILD;OMIM-CS:GROWTH_HEIGHT > DWARFISM, MILD MODIFIER:PROXIMAL;OMIM-CS:SKELETAL_LIMBS > SHORT RADII, PROXIMAL MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, SEVERE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > HYPERACTIVE BEHAVIOR, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, MILD MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > VISUAL LOSS, PROGRESSIVE MODIFIER:EPISODIC;OMIM-CS:MUSCLE, SOFT TISSUE > WEAKNESS, EPISODIC MODIFIER:BILATERAL;OMIM-CS:GENITOURINARY_KIDNEYS > HYDRONEPHROSIS, BILATERAL MODIFIER:DISTAL;OMIM-CS:SKELETAL_HANDS > ARTHROGRYPOSIS, DISTAL MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE, SEVERE MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > SYNOPHRYS, MILD MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_HAIR > SYNOPHRYS, MILD MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > DISTAL MUSCLE WASTING, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LOWER LIMB SPASTICITY, MILD MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_EYES > NIGHT BLINDNESS, SEVERE MODIFIER:MODERATE;OMIM-CS:SKIN, NAILS, HAIR_SKIN > PARAKERATOSIS, MODERATE MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, PROFOUND MODIFIER:MILD;OMIM-CS:CARDIOVASCULAR_VASCULAR > PULMONARY HYPERTENSION, MILD MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > CORNEAL CLOUDING, PROGRESSIVE MODIFIER:RECURRENT;OMIM-CS:metabolicfeatures > FEVER, RECURRENT MODIFIER:PROGRESSIVE;OMIM-CS:SKIN, NAILS, HAIR_HAIR > HAIR LOSS, PROGRESSIVE MODIFIER:GENERALIZED;OMIM-CS:skinnailshairskin > VITILIGO, GENERALIZED MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EARS > CONDUCTIVE HEARING LOSS, BILATERAL MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE MODIFIER:PROGRESSIVE;OMIM-CS:SKELETAL > PROGRESSIVE OSTEOPENIA MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT MODIFIER:PROFOUND;OMIM-CS:HEAD AND NECK_EARS > DEAFNESS, PROFOUND MODIFIER:PROFOUND;OMIM-CS:HEAD AND NECK_EARS > DEAFNESS, PROFOUND MODIFIER:EPISODIC;OMIM-CS:HEMATOLOGY > HEMOLYTIC ANEMIA, EPISODIC MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > MEMORY LOSS, PROGRESSIVE MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL IMPAIRMENT, MILD MODIFIER:DISTAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE, DISTAL MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE, PROXIMAL MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > EXOPHTHALMOS, MILD MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, BILATERAL MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, MILD MODIFIER:PROFOUND;OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL, PROFOUND MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > LOSS OF VISUAL ACUITY, PROGRESSIVE MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > MACULAR ATROPHY, PROGRESSIVE MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL WHITE MATTER ATROPHY, PROGRESSIVE MODIFIER:EPISODIC;OMIM-CS:ABDOMEN_GASTROINTESTINAL > INTESTINAL EDEMA, EPISODIC MODIFIER:EPISODIC;OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING, EPISODIC MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSKINESIA, EPISODIC MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY MODIFIER:EPISODIC;OMIM-CS:ABDOMEN > ABDOMINAL PAIN, EPISODIC MODIFIER:EPISODIC;OMIM-CS:HEAD AND NECK_MOUTH > APHTHOUS ULCERS, EPISODIC MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HEADACHE, EPISODIC MODIFIER:EPISODIC;OMIM-CS:SKIN, NAILS, HAIR_SKIN > URTICARIA, EPISODIC MODIFIER:PROGRESSIVE;OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY (PROGRESSIVE) MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR DELAY, SEVERE MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, PROGRESSIVE MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > REDUCED VISUAL ACUITY, BILATERAL MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL, MILD MODIFIER:EPISODIC;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, EPISODIC MODIFIER:PROXIMAL;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LOWER LIMB MUSCLE WEAKNESS, PROXIMAL MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION, SEVERE MODIFIER:PROGRESSIVE;OMIM-CS:skinnailshairhair > HAIR LOSS, PROGRESSIVE MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_SKIN > EPIDERMOLYTIC HYPERKERATOSIS, MILD MODIFIER:RECURRENT;OMIM-CS:ABDOMEN_GASTROINTESTINAL > RECURRENT VOMITING MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, DIFFUSE, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL RETARDATION, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED SPEECH DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, SEVERE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, PROFOUND MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > PERIPAPILLARY CHORIORETINAL ATROPHY, PROGRESSIVE MODIFIER:MILD;OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, FEMALE > HYPOPLASTIC LABIA MAJORA, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, MILD MODIFIER:GENERALIZED;OMIM-CS:SKELETAL_LIMBS > JOINT LAXITY, GENERALIZED MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CLUMSINESS (MILD) MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA (MILD) MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROFOUND (AT LEAST 10 SD BELOW MEAN) MODIFIER:RECURRENT;OMIM-CS:SKIN, NAILS, HAIR_SKIN > CELLULITIS, RECURRENT MODIFIER:MILD;OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOSPADIAS, MILD MODIFIER:MILD;OMIM-CS:RESPIRATORY_LUNG > PULMONARY HYPOPLASIA, MILD MODIFIER:EPISODIC;OMIM-CS:HEAD AND NECK_EYES > VISION LOSS, EPISODIC MODIFIER:PROGRESSIVE;OMIM-CS:IMMUNOLOGY > LYMPHOPENIA, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_EYES > HIGH MYOPIA, SEVERE MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EARS > PREAURICULAR SINUS, BILATERAL MODIFIER:MILD;OMIM-CS:HEMATOLOGY > THROMBOCYTOPENIA, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > BLEPHAROPHIMOSIS, MILD MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > CONGENITAL CATARACTS, BILATERAL MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, PROFOUND MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, MILD MODIFIER:MODERATE;OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY, MODERATE MODIFIER:MODERATE;OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY, MODERATE MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_MOUTH > CLEFT LIP, BILATERAL MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE, BILATERAL MODIFIER:EPISODIC;OMIM-CS:METABOLIC FEATURES > LACTIC ACIDOSIS, EPISODIC MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DIZZINESS, EPISODIC MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TRUNCAL ATAXIA, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM, MILD MODIFIER:MODERATE;OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS, MODERATE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, MILD MODIFIER:SEVERE;OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY, SEVERE MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > HYPERVENTILATION, EPISODIC MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (-12 TO -14.5 SD) MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > VISUAL IMPAIRMENT, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, DIFFUSE, SEVERE MODIFIER:GENERALIZED;OMIM-CS:skinnailshairskin > LIVEDO RETICULARIS, GENERALIZED MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSMETRIA, MILD MODIFIER:NONPROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY, NONPROGRESSIVE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD MODIFIER:SEVERE;OMIM-CS:SKELETAL_SPINE > KYPHOSCOLIOSIS, SEVERE MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HEMIPLEGIA, EPISODIC MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > QUADRIPLEGIA, EPISODIC MODIFIER:PROGRESSIVE;OMIM-CS:musclesofttissue > HYPOTONIA, PROGRESSIVE MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > AREFLEXIA, PROGRESSIVE MODIFIER:PROFOUND;OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL DEAFNESS, PROFOUND MODIFIER:PROFOUND;OMIM-CS:musclesofttissue > HYPOTONIA, PROFOUND MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT MODIFIER:PROGRESSIVE;OMIM-CS:musclesofttissue > HYPOTONIA, PROGRESSIVE MODIFIER:CHRONIC;OMIM-CS:ABDOMEN_LIVER > HEPATITIS, CHRONIC MODIFIER:EPISODIC;OMIM-CS:METABOLIC > HYPOGLYCEMIA, EPISODIC MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, BILATERAL MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, PROFOUND MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:HEMATOLOGY > PANCYTOPENIA, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT, SEVERE MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS, MILD MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > CENTRAL APNEA, EPISODIC MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PAIN, EPISODIC MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA (MILD) MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > STRABISMUS, MILD MODIFIER:MILD;OMIM-CS:SKELETAL_FEET > CAMPTODACTYLY, MILD MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC DIPLEGIA, PROGRESSIVE MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, SEVERE MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, SEVERE (-9 S.D.) MODIFIER:MILD;OMIM-CS:CHEST_EXTERNAL FEATURES > FUNNEL CHEST, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, MILD MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, MILD MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, LIMB-GIRDLE, MILD MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NEURODEGENERATION, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE MODIFIER:SEVERE;OMIM-CS:SKELETAL_HANDS > SYNDACTYLY, SEVERE MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY, DILATED, MILD MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > MENTAL DEFICIENCY, PROGRESSIVE MODIFIER:MILD;OMIM-CS:SKELETAL_LIMBS > BROAD FEMORAL NECK, MILD MODIFIER:MILD;OMIM-CS:SKELETAL_SPINE > ODONTOID HYPOPLASIA, MILD MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENCEPHALOPATHY, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:HEMATOLOGY > ANEMIA, SEVERE MODIFIER:SEVERE;OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY, DILATED, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION, MILD MODIFIER:DISTAL;OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AREFLEXIA, DISTAL MODIFIER:DISTAL;OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA, DISTAL MODIFIER:CHRONIC;OMIM-CS:HEAD AND NECK_FACE > SINUSITIS, CHRONIC MODIFIER:MILD;OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > SCAPULAR WINGING, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL WEAKNESS, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, SEVERE MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE DECLINE, PROGRESSIVE MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM LACTATE (MILD) MODIFIER:MILD;OMIM-CS:GROWTH_OTHER > MACROSOMIA, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY, MILD MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION, SEVERE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, PROFOUND MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT MODIFIER:EPISODIC;OMIM-CS:ABDOMEN_LIVER > ACUTE LIVER FAILURE, EPISODIC MODIFIER:EPISODIC;OMIM-CS:LABORATORY ABNORMALITIES > ABNORMAL LIVER ENZYMES, EPISODIC MODIFIER:EPISODIC;OMIM-CS:LABORATORY ABNORMALITIES > HYPERAMMONEMIA, EPISODIC MODIFIER:EPISODIC;OMIM-CS:METABOLIC FEATURES > KETOACIDOSIS, EPISODIC MODIFIER:EPISODIC;OMIM-CS:METABOLIC FEATURES > LACTIC ACIDOSIS, EPISODIC MODIFIER:SEVERE;OMIM-CS:GROWTH_WEIGHT > OBESITY, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, SEVERE MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > VISUAL LOSS, PROGRESSIVE MODIFIER:MODERATE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MODERATE MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE MODIFIER:BILATERAL;OMIM-CS:SKELETAL_FEET > TALIPES EQUINOVARUS, BILATERAL MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPEECH DELAY, SEVERE MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT, MILD MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EARS > PREAURICULAR FISTULAS, BILATERAL MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENCEPHALOPATHY, PROGRESSIVE MODIFIER:PROFOUND;OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MILD MODIFIER:MILD;OMIM-CS:CHEST_EXTERNAL FEATURES > PECTUS EXCAVATUM, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > RETROGNATHIA, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > CONGENITAL CATARACTS, BILATERAL MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > OPTIC NERVE ATROPHY, PROGRESSIVE MODIFIER:RECURRENT;OMIM-CS:METABOLIC FEATURES > FEVER, RECURRENT MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_FACE > SINUSITIS, RECURRENT MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:GENERALIZED;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, GENERALIZED MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > TACHYPNEA, EPISODIC MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:SEVERE;OMIM-CS:SKELETAL_SPINE > KYPHOSCOLIOSIS, SEVERE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:SEVERE;OMIM-CS:CARDIOVASCULAR_VASCULAR > HYPERTENSION, SEVERE MODIFIER:BILATERAL;OMIM-CS:ENDOCRINE FEATURES > ADRENAL HYPERPLASIA, BILATERAL MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AXIAL HYPOTONIA, SEVERE MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, PROGRESSIVE MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, PROFOUND MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC QUADRIPLEGIA, PROGRESSIVE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PONTINE HYPOPLASIA, MILD MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENCEPHALOPATHY, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_EYES > MYOPIA, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE MODIFIER:SEVERE;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, SEVERE MODIFIER:RECURRENT;OMIM-CS:RESPIRATORY > LOWER RESPIRATORY TRACT INFECTIONS, RECURRENT MODIFIER:CHRONIC;OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT, CHRONIC MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS, MILD MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:EPISODIC;OMIM-CS:HEMATOLOGY > DISSEMINATED INTRAVASCULAR COAGULATION, EPISODIC MODIFIER:EPISODIC;OMIM-CS:HEMATOLOGY > PANCYTOPENIA, EPISODIC MODIFIER:EPISODIC;OMIM-CS:METABOLIC FEATURES > FEVER, EPISODIC MODIFIER:EPISODIC;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, EPISODIC MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA, EPISODIC MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SLURRED SPEECH, EPISODIC MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MILD MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, SEVERE MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, SEVERE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MILD MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD MODIFIER:SEVERE;OMIM-CS:METABOLIC FEATURES > KETOACIDOSIS, SEVERE MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > UPSLANTING PALPEBRAL FISSURES, MILD MODIFIER:MODERATE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MODERATE MODIFIER:EPISODIC;OMIM-CS:SKELETAL > ARTHRALGIA, EPISODIC MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > OPHTHALMOPLEGIA, MILD MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM LACTATE, MILD MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM PYRUVATE, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > DYSMORPHIC FACIAL FEATURES, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:GENERALIZED;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, GENERALIZED MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > POSTERIOR SUBCAPSULAR CATARACT, BILATERAL MODIFIER:MILD;OMIM-CS:CHEST_EXTERNAL FEATURES > PECTUS EXCAVATUM, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, SEVERE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALY, MILD MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > ESSENTIAL TREMOR, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > APNEA, EPISODIC MODIFIER:MILD;OMIM-CS:MUSCLE > MUSCLE ATROPHY, MILD MODIFIER:MILD;OMIM-CS:MUSCLE > MUSCLE WEAKNESS, PROXIMAL, MILD MODIFIER:DISTAL;OMIM-CS:SKELETAL > ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL MODIFIER:DISTAL;OMIM-CS:SKELETAL > ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL MODIFIER:DISTAL;OMIM-CS:SKELETAL_LIMBS > CONTRACTURES, DISTAL MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, MILD MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > GENERALIZED MUSCLE WEAKNESS, SEVERE MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT, MILD MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, PROGRESSIVE MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM, MILD MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL ASYMMETRY, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > HYPERAMMONEMIA, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MILD MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > VITREOUS DETACHMENT, PROGRESSIVE MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_EYES > CATARACT, CONGENITAL, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD;OMIM-CS:HEMATOLOGY > LYMPHOPENIA, MILD MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA, PROGRESSIVE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATROPHY OF CEREBELLAR VERMIS, MILD MODIFIER:BILATERAL;OMIM-CS:SKELETAL_PELVIS > ACETABULAR DYSPLASIA, BILATERAL MODIFIER:PROGRESSIVE;OMIM-CS:HEMATOLOGY > BONE MARROW FAILURE, PROGRESSIVE MODIFIER:MODERATE;OMIM-CS:HEAD AND NECK_EYES > OPTIC DISC PALLOR, MODERATE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE MODIFIER:MILD MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE MODIFIER:PROFOUND;OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, PROFOUND MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, PROFOUND MODIFIER:PROFOUND;OMIM-CS:musclesofttissue > HYPOTONIA, PROFOUND MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, MILD MODIFIER:MILD;OMIM-CS:SKELETAL_SPINE > THORACOLUMBAR SCOLIOSIS, MILD MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA, MILD MODIFIER:PROGRESSIVE;OMIM-CS:abdomenliver > CHOLESTATIC LIVER DISEASE, PROGRESSIVE MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > NEURODEGENERATION, PROGRESSIVE MODIFIER:PROFOUND;OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY, PROFOUND MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY MODIFIER:RECURRENT;OMIM-CS:respiratorylung > ASPIRATION PNEUMONIA, RECURRENT MODIFIER:PROGRESSIVE;OMIM-CS:growthother > GROWTH FAILURE, PROGRESSIVE MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY MODIFIER:PROFOUND;OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY MODIFIER:PROGRESSIVE;OMIM-CS:abdomenliver > LIVER FAILURE, PROGRESSIVE MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY MODIFIER:PROGRESSIVE;OMIM-CS:headandneckeyes > RETINAL DYSTROPHY, PROGRESSIVE MODIFIER:PROFOUND;OMIM-CS:musclesofttissue > HYPOTONIA, PROFOUND MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY MODIFIER:GENERALIZED;OMIM-CS:neurologiccentralnervoussystem > DYSTONIA, GENERALIZED MODIFIER:RECURRENT;OMIM-CS:respiratory > APNEA, RECURRENT MODIFIER:PROGRESSIVE;OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY, PROGRESSIVE MODIFIER:GENERALIZED;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, GENERALIZED MODIFIER:MODERATE;OMIM-CS:growthother > GROWTH RETARDATION, MODERATE MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY MODIFIER:PROGRESSIVE;OMIM-CS:skeletalspine > KYPHOSCOLIOSIS, PROGRESSIVE MODIFIER:RECURRENT;OMIM-CS:abdomengastrointestinal > RECURRENT VOMITING

pnrobinson commented 6 years ago

Note that this can be used to pull out the full annotation lines

$ cat *tab | awk '$17~/MODIFIER/' | grep PROGRESSIVE
pnrobinson commented 6 years ago

This is working and tests are being developed.