v2021-06-01

New Classes

• MONDO:0021421 carcinoid tumors, intestina
• MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, x-linked
• MONDO:0025356 azoospermia, obstructive, with nephrolithiasis
• MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
• MONDO:0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
• MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
• MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy
• MONDO:0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
• MONDO:0030859 COACH syndrome 2
• MONDO:0030860 neuronopathy, distal hereditary motor, type 5C
• MONDO:0030862 COACH syndrome 3
• MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
• MONDO:0030871 vertebral hypersegmentation and orofacial anomalies
• MONDO:0030873 cardiofacioneurodevelopmental syndrome
• MONDO:0030878 Kaya-Barakat-Masson syndrome
• MONDO:0030880 mandibuloacral dysplasia progeroid syndrome
• MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
• MONDO:0030893 leukoencephalopathy, progressive, infantile-onset, with or without deafness
• MONDO:0030896 chromosome 13q33-q34 deletion syndrome
• MONDO:0030897 Lessel-Kreienkamp syndrome
• MONDO:0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures
• MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy
• MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
• MONDO:0030963 Li-Campeau syndrome
• MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis
• MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy
• MONDO:0030976 oculomotor-abducens synkinesis
• MONDO:0030977 neuropathy, hereditary motor, with myopathic features
• MONDO:0030978 endove syndrome, limb-only type
• MONDO:0030979 endove syndrome, limb-brain type
• MONDO:0030982 sulfide quinone oxidoreductase deficiency
• MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa
• MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects
• MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies
• MONDO:0030990 Kohlschutter-Tonz syndrome-like
• MONDO:0030991 bile acid conjugation defect 1
• MONDO:0030992 short stature, oligodontia, dysmorphic facies, and motor delay
• MONDO:0030994 neurodevelopmental disorder with or without autism or seizures
• MONDO:0030995 global developmental delay with speech and behavioral abnormalities
• MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
• MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia
• MONDO:0031002 Baralle-Macken syndrome
• MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy
• MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
• MONDO:0031008 nephrotic syndrome, type 24
• MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures
• MONDO:0100283 overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
• MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
• MONDO:0100349 COACH syndrome
• MONDO:0100350 neuronopathy, distal hereditary motor, type 5
• MONDO:0100352 episodic kinesigenic dyskinesia 1
• MONDO:0400006 botryomycosis
• MONDO:0500000 episodic angioedema with eosinophilia
• MONDO:0600001 glutaminase deficiency
• MONDO:0600002 hemorrhagic fever
• MONDO:0600003 bacterial hemorrhagic fever
• MONDO:0600005 venom allergy
• MONDO:0600008 cytokine release syndrome
• MONDO:0600009 severe hypophosphatasia
• MONDO:0600010 moderate hypophosphatasia
• MONDO:0600011 mild hypophosphatasia

Obsoletions

• MONDO:0007189 B-cell growth factor --> obsolete B-cell growth factor
• MONDO:0007494 episodic kinesigenic dyskinesia 1 --> obsolete episodic kinesigenic dyskinesia 1
• MONDO:0007798 adult hypophosphatasia --> obsolete adult hypophosphatasia
• MONDO:0009325 deafness-enamel hypoplasia-nail defects syndrome --> obsolete deafness-enamel hypoplasia-nail defects syndrome
• MONDO:0009427 infantile hypophosphatasia --> obsolete infantile hypophosphatasia
• MONDO:0009428 childhood hypophosphatasia --> obsolete childhood hypophosphatasia
• MONDO:0010990 Cd4/CD8 T-cell ratio --> obsolete Cd4/CD8 T-cell ratio
• MONDO:0014763 Bombay phenotype --> obsolete Bombay phenotype
• MONDO:0016343 unclassified cardiomyopathy --> obsolete unclassified cardiomyopathy
• MONDO:0016606 prenatal benign hypophosphatasia --> obsolete prenatal benign hypophosphatasia
• MONDO:0023052 ectrodactyly polydactyly --> obsolete ectrodactyly polydactyly
• MONDO:0030965 olmsted syndrome 2 --> obsolete olmsted syndrome 2

Renaming

• MONDO:0007189 B-cell growth factor --> obsolete B-cell growth factor
• MONDO:0007494 episodic kinesigenic dyskinesia 1 --> obsolete episodic kinesigenic dyskinesia 1
• MONDO:0007798 adult hypophosphatasia --> obsolete adult hypophosphatasia
• MONDO:0008996 Joubert syndrome with hepatic defect --> COACH syndrome 1
• MONDO:0009120 marfanoid syndrome, De Silva type --> diverticulosis of bowel, hernia, and retinal detachment
• MONDO:0009325 deafness-enamel hypoplasia-nail defects syndrome --> obsolete deafness-enamel hypoplasia-nail defects syndrome
• MONDO:0009427 infantile hypophosphatasia --> obsolete infantile hypophosphatasia
• MONDO:0009428 childhood hypophosphatasia --> obsolete childhood hypophosphatasia
• MONDO:0010990 Cd4/CD8 T-cell ratio --> obsolete Cd4/CD8 T-cell ratio
• MONDO:0011175 friedreich ataxia 2 --> Friedreich ataxia 2
• MONDO:0014763 Bombay phenotype --> obsolete Bombay phenotype
• MONDO:0014805 16p13.2 microdeletion syndrome --> Hao-Fountain syndrome
• MONDO:0015667 unclassified acute myeloid leukemia --> acute myeloid leukemia by FAB classification
• MONDO:0016343 unclassified cardiomyopathy --> obsolete unclassified cardiomyopathy
• MONDO:0016606 prenatal benign hypophosphatasia --> obsolete prenatal benign hypophosphatasia
• MONDO:0018603 interstitial lung disease due to SP-c deficiency --> interstitial lung disease due to SP-C deficiency
• MONDO:0020720 X-linked hypophosphatemic rickets (recessive or dominant) --> X-linked hypophosphatemic rickets
• MONDO:0023052 ectrodactyly polydactyly --> obsolete ectrodactyly polydactyly
• MONDO:0030965 olmsted syndrome 2 --> obsolete olmsted syndrome 2
• MONDO:0032728 charcot-marie-tooth disease, axonal, type 2ee --> Charcot-Marie-Tooth disease, axonal, type 2EE