v2026-06-02

New terms: 1882 = 6 human diseases + 1876 non-human animal diseases (only 20 displayed here)

Mondo ID	Label	Definition
MONDO:1060224	STAT5 haploinsufficiency	A condition characterized by haploinsufficient levels of STAT5 protein due to reduced copy number or expression of the STAT5A and/or STAT5B genes, with consequent attenuation of STAT5-mediated cytokine signalling (including IL-7 and growth hormone pathways). This condition is also associated with altered lymphocyte homeostasis and modified susceptibility to lymphoma development.
MONDO:1060225	TTN-related myopathy, dominant-negative TTNsv	A skeletal muscle disorder caused by heterozygous multi-exon in-frame structural variants of TTN (TTNsv) that escape nonsense-mediated decay and result in expression of an internally deleted titin isoform with dominant-negative effects on sarcomere structure and function. Affected individuals typically present with congenital, childhood-onset, or adult-onset proximal and/or distal muscle weakness, often accompanied by joint contractures, and may develop respiratory involvement or cardiomyopathy.
MONDO:1060226	MCM9-related gametogenic failure	A disorder of sexual differentiation caused by biallelic variation in the MCM9 gene. Affected females (46,XX) may present with primary ovarian insufficiency or ovarian dysgenesis with short stature; affected males (46,XY) may present with non-obstructive azoospermia due to meiotic failure. Biallelic MCM9 variants have also been associated with predisposition to early-onset colorectal cancer, polyposis, gastric cancer, and germ cell tumors.
MONDO:1060227	systemic lupus erythematosus related to C1QC	Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QC gene.
MONDO:1060228	systemic lupus erythematosus related to C1QB	Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QB gene.
MONDO:7770747	hepatic fibrinogen storage disease	An autosomal dominant disorder characterized by hypofibrinogenemia and variable liver disease (ranging from asymptomatic transaminase elevation to cirrhosis), caused by variants in FGG that lead to retention of variant fibrinogen as eosinophilic inclusions within the hepatocellular endoplasmic reticulum.
MONDO:1013793	aural adenocarcinoma, non-human animal
MONDO:1013794	aural hematoma, non-human animal
MONDO:1013795	auricular chondritis, non-human animal
MONDO:1013796	complete deafness, non-human animal
MONDO:1013797	partial deafness, non-human animal
MONDO:1013798	chronic ear disease, non-human animal
MONDO:1013799	bacterial ear infection, non-human animal
MONDO:1013800	fungal ear infection, non-human animal
MONDO:1013802	chronic otitis externa, non-human animal
MONDO:1013803	otitis externa of meatus and canal, non-human animal
MONDO:1013804	otitis externa of pinna, non-human animal
MONDO:1013805	infective otitis externa, non-human animal
MONDO:1013806	acute otitis media, non-human animal	Infectious otitis media that occurs in non-human animals.
MONDO:1013807	chronic otitis media, non-human animal	Chronic otitis media that occurs in non-human animals.
MONDO:1013808	infective otitis media, non-human animal
MONDO:1013809	ear mass, non-human animal
MONDO:1013810	traumatic ear canal avulsion, non-human animal
MONDO:1013811	ear cutaneous squamous cell carcinoma, non-human animal
MONDO:1013812	ear canal polyp, non-human animal
MONDO:1013813	guttural pouch disorder, non-human animal
...	1856 new terms not displayed

Terms renamed (excluding obsoleted terms): 1

Mondo ID	Old Label	New Label
MONDO:0020040	46,XY disorder of sex development	46 XY differences of sex development

Text definitions added to existing terms: 5

Mondo ID	Label	New Text Definition
MONDO:0044640	Charcot-Marie-Tooth disease type 2T	A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
MONDO:0017926	multiple paragangliomas associated with polycythemia	A syndrome caused by early postzygotic mosaic gain-of-function mutations in EPAS1 (encoding hypoxia-inducible factor 2 alpha, HIF-2alpha), characterized by multiple paragangliomas, somatostatinomas, and polycythemia, with variable vascular malformations and neural tube defects.
MONDO:0859003	PAICS deficiency	An inborn disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include, esophageal atresia with or without treacheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.
MONDO:0859257	intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	A rare genetic neurological disorder characterized by early-onset global developmental delay, intellectual disability, speech and language impairment, early-onset hypotonia and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of seizures (including tonic-clonic, focal, generalized and absence seizures, infantile spasms and rolandic epilepsy) and behavioral problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild intellectual disability. Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbor 2q24 microdeletion including the NR4A2 gene or have de novo mutations in this gene.
MONDO:0957874	neuronopathy, distal hereditary motor, autosomal recessive 9	A rare autosomal recessive distal hereditary motor neuropathy caused by a mutation in the COQ7 gene, characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present.

Text definitions changed: 1

Mondo ID	Label	Old Text Definition	New Text Definition
MONDO:0013947	neuronopathy, distal hereditary motor, autosomal recessive 5	Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.	A rare autosomal recessive distal hereditary motor neuropathy caused by a variation in DNAJB2 gene, characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment.

Terms obsoleted with replacement: 6

Mondo ID	Label	Replacement
MONDO:0859244	obsolete phosphoribosylaminoimidazole carboxylase deficiency	PAICS deficiency (MONDO:0859003)
MONDO:0958129	obsolete COQ7-related distal hereditary motor neuropathy	neuronopathy, distal hereditary motor, autosomal recessive 9 (MONDO:0957874)
MONDO:0014866	obsolete Charcot-Marie-Tooth disease axonal type 2T	Charcot-Marie-Tooth disease type 2T (MONDO:0044640)
MONDO:0008284	obsolete polyposis of gastric fundus without polyposis coli	gastric adenocarcinoma and proximal polyposis of the stomach (MONDO:0017790)
MONDO:0005719	obsolete Coronavinae infectious disease	Orthocoronavirinae infectious disease (MONDO:0020753)
MONDO:0100025	obsolete epilepsy of infancy with migrating focal seizures	malignant migrating partial seizures of infancy (MONDO:0017385)

Terms obsoleted without replacement: 0

Mondo ID	Label

New obsoletion candidates: 8

Mondo ID	Label
MONDO:0011271	rigid spine muscular dystrophy 1
MONDO:0019398	desmin-related myopathy with Mallory body-like inclusions
MONDO:0030528	immunodeficiency 93 and hypertrophic cardiomyopathy
MONDO:0035694	combined immunodeficiency due to RELA haploinsufficiency
MONDO:0100351	POLD1-related polyposis and colorectal cancer syndrome
MONDO:0970994	immunodeficiency 120
MONDO:0975834	immunodeficiency 128
MONDO:0976228	immunodeficiency 132b

Terms that were previously candidates for obsoletion and are now not anymore: 0

Mondo ID	Label