2018-08-03 release

2018-08-03 Release

This release includes more complete mappings to UMLS/MEDGEN

• idiopathic mast cell activation syndrome
• acetazolamide-responsive hereditary episodic ataxia
• tendinopathy
• tendinosis
• paratenonitis
• paratenonitis with tendinosis
• mast cell activation syndrome
• primary mast cell activation syndrome
• secondary mast cell activation syndrome
• obsolete apocrine gland secretion, variation 1n
• obsolete radin blood group antigen
• obsolete defective interfering particle induction, control of
• obsolete creatine kinase, brain type, ectopic expression of
• obsolete blood group, 1 system
• obsolete blood group, p1pk system
• obsolete blood group--lutheran inhibitor
• obsolete eegbqtl
• obsolete dimples, facial
• obsolete epiblepharon of lower 51d
• obsolete hsr
• obsolete hrm2
• obsolete hypercholesterolemia suppressor
• obsolete hepatitis b vaccine, response to
• obsolete eyebrow, whorl 1n
• obsolete epiblepharon of upper 51d
• obsolete hair whorl
• obsolete fingers, relative length of
• obsolete median-ulnar nerve communications
• obsolete lunulae of fingernails
• episodic kinesigenic dyskinesia
• T+ B+ severe combined immunodeficiency
• Shwachman-Diamond syndrome 1
• foveal hypoplasia
• T-B+ severe combined immunodeficiency
• disorder of lectin complement activation pathway
• otospondylomegaepiphyseal dysplasia, autosomal recessive
• Shwachman-Diamond syndrome 2
• specific granule deficiency 2
• specific granule deficiency 1
• acute idiopathic urticaria
• chronic idiopathic urticaria
• obsolete arm folding preference
• obsolete androstenone, ability to smell
• idiopathic urticaria
• thalassemia minor
• obsolete asparagus, specific smell hypersensitivity
• obsolete artichoke, modification of taste by
• obsolete blood group, duffy system
• obsolete beeturia
• obsolete ec1
• obsolete cyanide, inability to smell
• obsolete menoq1
• obsolete transsexuality
• obsolete gcy
• obsolete novelty seeking personality trait
• obsolete radial loop, plain, on right index finger
• obsolete lutheran suppressor, x-linked
• obsolete xm system
• obsolete tooth size
• obsolete bone mineral density quantitative trait locus 1
• obsolete bilirubin, serum level of, quantitative trait locus 1
• obsolete hypertension, diastolic, resistance to
• obsolete body mass index quantitative trait locus 9
• obsolete bone mineral density quantitative trait locus 15
• obsolete short sleeper
• obsolete carotid intimal medial thickness 1
• obsolete hemoglobin, high altitude adaptation
• obsolete uric acid concentration, serum, quantitative trait locus 4
• obsolete skin/hair/eye pigmentation, variation in, 11
• obsolete musical perfect pitch
• obsolete nystagmus, voluntary
• obsolete nailbeds, pigmentation of
• obsolete thiourea tasting
• obsolete palmomental reflex
• obsolete mydriasis, congenital
• obsolete mydriatic response to pharmacologic agents
• obsolete nail low-sulfur protein
• obsolete nail high-sulfur protein
• obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1
• obsolete australia antigen
• obsolete tongue curling, folding, or rolling
• obsolete lutheran null
• obsolete skin/hair/eye pigmentation, variation in, 5
• obsolete skin/hair/eye pigmentation, variation in, 2
• obsolete methane production
• obsolete dermatoglyphics--palmar triradius d, absence of
• obsolete skin/hair/eye pigmentation, variation in, 6
• obsolete skin/hair/eye pigmentation, variation in, 1
• obsolete dermatoglyphics--hypothenar radial arch
• obsolete blood group, vel system
• obsolete c3hex, ability to smell
• obsolete blood group, gerbich system
• obsolete body mass index quantitative trait locus 18
• obsolete glycerol quantitative trait locus
• myasthenic syndrome, congenital, 22
• paranasal sinus squamous cell carcinoma
• oropharynx squamous cell carcinoma
• childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• sin3a-related intellectual disability syndrome due to a point mutation
• X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
• cochleovestibular dysplasia
• lip and oral cavity squamous cell carcinoma
• stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
• metopic ridging-ptosis-facial dysmorphism syndrome
• alkaline ceramidase 3 deficiency
• 4q25 proximal deletion syndrome
• mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
• erythema multiforme major
• salivary gland squamous cell carcinoma
• major salivary gland cancer
• autosomal recessive epidermolytic ichthyosis
• nervous system injury
• prekallikrein deficiency
• severe combined immunodeficiency due to LAT deficiency
• cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
• pancreatic carcinoma with mixed differentiation
• psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
• 3-methylglutaconic aciduria type 8
• combined immunodeficiency due to GINS1 deficiency
• 3-methylglutaconic aciduria type 9
• Gabriele de Vries syndrome
• autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
• Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
• EMILIN-1-related connective tissue disease
• 16p12.1p12.3 triplication syndrome
• six2-related frontonasal dysplasia
• acute macular neuroretinopathy
• congenital amyoplasia
• pediatric collagenous gastritis
• female infertility due to oocyte meiotic arrest
• autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
• early-onset familial noncirrhotic portal hypertension
• rere-related neurodevelopmental syndrome
• idiopathic pleuroparenchymal fibroelastosis
• extracranial carotid artery aneurysm
• hypopharynx squamous cell carcinoma
• diaph1-related sensorineural hearing loss-thrombocytopenia syndrome
• retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
• infantile-onset generalized dyskinesia with orofacial involvement
• rare hyperkinetic movement disorder
• X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
• propylthiouracil embryofetopathy
• CLCN4-related X-linked intellectual disability syndrome
• aquagenic palmoplantar keratoderma
• menstrual cycle-dependent periodic fever
• LRP5-related primary osteoporosis
• c11orf73-related autosomal recessive hypomyelinating leukodystrophy
• 9q33.3q34.11 microdeletion syndrome
• congenital agenesis of the scrotum
• congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
• charcot-marie-tooth disease type 2T
• omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
• early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
• familial monosomy 7 syndrome
• kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
• kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
• optic atrophy-peripheral neuropathy-developmental delay syndrome
• c12orf65-related combined oxidative phosphorylation defect
• early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
• MME-related autosomal dominant Charcot Marie Tooth disease type 2
• epidermolytic nevus
• short rib-polydactyly syndrome type 5
• autoimmune/inflammatory optic neuropathy
• isolated optic neuritis
• chronic relapsing inflammatory optic neuropathy
• mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• tuberculous meningitis
• limbic encephalitis with neurexin-3 antibodies
• recurrent idiopathic neuroretinitis
• optic perineuritis
• early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
• sin3a-related intellectual disability syndrome
• arthrogryposis-ectodermal dysplasia-other anomalies syndrome
• aortic aneurysm, familial thoracic 11, susceptibility to
• familial adenomatous polyposis 4
• congenital heart defects and ectodermal dysplasia
• congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
• diamond-blackfan anemia 16
• bardet-biedl syndrome 21
• ectodermal dysplasia 13, hair/tooth type
• hyperphenylalaninemia, mild, non-bh4-deficient
• neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
• immunoskeletal dysplasia with neurodevelopmental abnormalities
• brachycephaly, trichomegaly, and developmental delay
• retinitis pigmentosa 78
• mental retardation, autosomal recessive 60
• diamond-blackfan anemia 17
• intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
• thrombocytopenia, anemia, and myelofibrosis
• craniosynostosis 7
• intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
• premature ovarian failure 13
• Schistosoma mansoni infectious disease
• Schistosoma japonicum infectious disease
• red blood cell disease
• echinococcus granulosus infectious disease
• cervical disc degenerative disorder
• thoracic disc degenerative disorder
• acquired hemoglobinopathy
• hemoglobinopathy
• hyperparathyroidism, primary, caused by water clear cell hyperplasia
• isolated sternocostoclavicular hyperostosis
• Schistosoma intercalatum infectious disease
• Rosai-Dorfman disease
• Rahman syndrome
• intellectual developmental disorder with neuropsychiatric features
• fanconi anemia, complementation group W
• Al Kaissi syndrome
• structural heart defects and renal anomalies syndrome
• retinitis pigmentosa 79
• polycystic liver disease 4 with or without kidney cysts
• developmental delay and seizures with or without movement abnormalities
• osteogenesis imperfecta, type 18
• short-rib thoracic dysplasia 20 with polydactyly
• connective and soft tissue neoplasm
• alcohol-induced Wernicke-Korsakoff's syndrome
• colorectal signet ring cell carcinoma
• benign soft tissue neoplasm
• hyperekplexia 4
• childhood-onset benign chorea with striatal involvement
• genetic transient congenital hypothyroidism
• autoimmune primary ovarian failure
• stromal sarcoma
• lumbar disc degenerative disorder