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Disease	Synonyms	Description
spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3-Related Skeletal Dysplasia; CHONDRODYSPLASIA.. [+] CHST3-Related Skeletal Dysplasia; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; Humero-spinal dysostosis with congenital heart disease; Humerospinal Dysostosis; Humerospinal dysostosis; Kozlowski Celermajer Tink syndrome; Omani Type; Spondyloepiphyseal Dysplasia [-]	A spondyloepimetaphyseal dysplasia that is charact..[+] A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [-]
third-degree atrioventricular block	complete AV block	n_a
Troyer syndrome	childhood-onset spastic paraparesis with distal mu.. [+] childhood-onset spastic paraparesis with distal muscle wasting; autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia type 20; hereditary spastic paraplegia 20; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
medulloblastoma	CNS PNET; CPNET; brain medulloblastoma; infratento.. [+] CPNET; CNS PNET; brain medulloblastoma; infratentorial primitive neuroectodermal tumor; localized primitive neuroectodermal tumor; Medulloblastoma, histologically defined [-]	An infratentorial cancer that is located_in the lo..[+] An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [-]
ovarian clear cell carcinoma	clear-cell ovarian carcinoma	An ovarian carcinoma that has_material_basis_in ce..[+] An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. [-]
Omenn syndrome	combined immunodeficiency with hypereosinophilia	A severe combined immunodeficiency that has_materi..[+] A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. [-]
primary cutaneous T-cell non-Hodgkin lymphoma	cutaneous T cell lymphoma; cutaneous T-cell lympho.. [+] cutaneous T cell lymphoma; cutaneous T-cell lymphoma [-]	A non-Hodgkin's lymphoma that has_material_basis_i..[+] A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells. [-]
ileitis	Crohn's ileitis	An inflammatory bowel disease characterized by inf..[+] An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. [-]
amyotrophic lateral sclerosis type 17	CHMP2B-related amyotrophic lateral sclerosis; ALS1.. [+] CHMP2B-related amyotrophic lateral sclerosis; ALS17; amyotrophic lateral sclerosis 17 [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the CHMP2B gene on chromosome 3. [-]
3MC syndrome	craniofacial-ulnar-renal syndrome; oculopalatoskel.. [+] craniofacial-ulnar-renal syndrome; oculopalatoskeletal syndrome [-]	A syndrome characterized by blepharophimosis, blep..[+] A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. [-]
Van Maldergem syndrome	cerebro-facio-articular syndrome	A syndrome characterized by facial abnormalities s..[+] A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. [-]
MASA syndrome	CRASH syndrome; Gareis-Mason syndrome; hereditary .. [+] CRASH syndrome; Gareis-Mason syndrome; hereditary spastic paraplegia 1; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked corpus callosum agenesis; X-linked spastic paraplegia 1 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [-]
parietal foramina	Caitlin marks; enlarged parietal foramina; heredit.. [+] Caitlin marks; enlarged parietal foramina; hereditary cranium bifidum [-]	n_a
X-linked chondrodysplasia punctata	chondrodystrophia calcificans congenita	n_a
megalocornea	congenital anterior megalophthalmia; anterior mega.. [+] congenital anterior megalophthalmia; anterior megalophthalmos [-]	A corneal disease that is characterized by a bilat..[+] A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. [-]
angular cheilitis	cheilosis; commissural cheilitis; angular cheilosi.. [+] commissural cheilitis; cheilosis; angular cheilosis; angular stomatitis [-]	A cheilitis characterized by inflammation of one o..[+] A cheilitis characterized by inflammation of one or both of the corners of the mouth. [-]
tracheomalacia	congenital tracheomalacia	A tracheal disease characterized by flaccidity of ..[+] A tracheal disease characterized by flaccidity of the tracheal support cartilage. [-]
Native American myopathy	congenital myopathy 13; Bailey-Bloch congenital my.. [+] congenital myopathy 13; Bailey-Bloch congenital myopathy [-]	A congenital myopathy that is characterized by con..[+] A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. [-]
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	chorioretinal dysplasia-microcephaly-mental retard.. [+] chorioretinal dysplasia-microcephaly-mental retardation syndrome; lymphedema and retinal folds with ficrocephaly and microphthalmos; lymphedema, microcephaly and chorioretinopathy syndrome; microcephaly lymphedema chorioretinal dysplasia; microcephaly, lymphedema, chorioretinal dysplasia syndrome [-]	A syndrome characterized byvariable expression of ..[+] A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. [-]
distal 10q deletion syndrome	chromosome 10q26 deletion syndrome; distal monosom.. [+] chromosome 10q26 deletion syndrome; distal monosomy 10q; monosomy 10qter; telomeric deletion 10q; terminal chromosome 10q26 deletion syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. [-]
3p- syndrome	chromosome 3pter-P25 deletion syndrome; distal mon.. [+] chromosome 3pter-P25 deletion syndrome; distal monosomy 3p [-]	n_a
granular corneal dystrophy type II	CGD2; combined granular-lattice corneal dystrophy; .. [+] combined granular-lattice corneal dystrophy; CGD2; avellino corneal dystrophy; granular corneal dystrophy type 2 [-]	n_a
epithelial basement membrane dystrophy	Cogan corneal dystrophy; EBMD; microcystic corneal.. [+] Cogan corneal dystrophy; EBMD; microcystic corneal dystrophy [-]	n_a
gelatinous drop-like corneal dystrophy	corneal amyloidosis; GDCD; primary familial amyloi.. [+] corneal amyloidosis; GDCD; primary familial amyloidosis of the cornea; subepithelial amyloidosis of the cornea [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. [-]
Reis-Bucklers corneal dystrophy	corneal dystrophy of Bowman layer type I; anterior.. [+] corneal dystrophy of Bowman layer type I; anterior limiting membrane dystrophy type I; geographic corneal dystrophy; granular corneal dystrophy type III; RBCD [-]	n_a
Thiel-Behnke corneal dystrophy	corneal dystrophy of Bowman layer type II; corneal.. [+] corneal dystrophy of Bowman layer type II; corneal dystrophy honeycomb-shaped; anterior limiting membrane dystrophy type II; TBCD; Waardenburg-Jonker corneal dystrophy [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
Schnyder corneal dystrophy	crystalline stromal dystrophy; corneal dystrophy c.. [+] crystalline stromal dystrophy; corneal dystrophy crystalline of Schnyder; hereditary crystalline stromal dystrophy of Schnyder; SCCD; Schnyder crystalline corneal dystrophy [-]	n_a
familial erythrocytosis 2	Chuvash type polycythemia; Chuvash polycythemia; C.. [+] Chuvash polycythemia; Chuvash type polycythemia; Chuvash erythromatosis; autosomal recessive benign erythrocytosis; familial erythrocytosis 2; ECYT2 [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
orange allery	Citrus sinensis fruit allergy	A fruit allergy triggered by Citrus sinensis plant..[+] A fruit allergy triggered by Citrus sinensis plant fruit food product. [-]
melon allergy	Cucumis melo fruit allergy	A fruit allergy triggered by Cucumis melo plant fr..[+] A fruit allergy triggered by Cucumis melo plant fruit food product. [-]
goat milk allergy	Capra hircus milk allergy	A milk allergy triggered by Capra hircus milk.
Ritscher-Schinzel syndrome	CCC dysplasia; craniocerebellocardiac dysplasia; 3.. [+] craniocerebellocardiac dysplasia; CCC dysplasia; 3C syndrome [-]	A syndrome by craniofacial (prominent occiput and ..[+] A syndrome by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. [-]
hypertrichotic osteochondrodysplasia Cantu type	Cantu syndrome	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. [-]
Yunis-Varon syndrome	cleidocranial dysplasia-micrognathia-absent thumbs.. [+] cleidocranial dysplasia-micrognathia-absent thumbs syndrome; cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia [-]	A syndrome characterized by skeletal defects, incl..[+] A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has material basis in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. [-]
hereditary motor and sensory neuropathy with agenesis of the corpus callosum	corpus callosum agenesis-neuronopathy syndrome; Ch.. [+] corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease; agenesis of the corpus callosum with peripheral neuropathy; Andermann syndrome; peripheral neuropathy associated with agenesis of the corpus callosum [-]	A neuropathy that has_material_basis_in homozygous..[+] A neuropathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. It is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. [-]
microcephalic osteodysplastic primordial dwarfism type I	cephaloskeletal dysplasia; brachymelic primordial .. [+] cephaloskeletal dysplasia; brachymelic primordial dwarfism; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. [-]
fetal encasement syndrome	cocoon syndrome; fetal encasement syndrome	A syndrome that has_material_basis_in homozygous m..[+] A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. [-]
arteriovenous malformations of the brain	cerebral arteriovenous malformation; intracranial .. [+] cerebral arteriovenous malformation; intracranial arteriovenous malformation [-]	An arteriovenous malformation that is located_in t..[+] An arteriovenous malformation that is located_in the brain. [-]
hyperekplexia	congenital stiff man syndrome; familial startle di.. [+] congenital stiff man syndrome; familial startle disease; hereditary hyperekplexia; Kok disease; startle disease [-]	A nervous system disease characterized by an exagg..[+] A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. [-]
lymphoproliferative syndrome	Combined immunodeficiency due to ITK deficiency	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. [-]
lymphoproliferative syndrome 2	CD27 deficiency; LPFS2	A lymphoproliferative syndrome characterized by au..[+] A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. [-]
NGLY1-deficiency	congenital disorder of glycosylation type Iv; cong.. [+] congenital disorder of glycosylation type Iv; congenital disorder of deglycosylation; deficiency of N-glycanase 1; NGLY1-CDDG [-]	A carbohydrate metabolic disorder that has_materia..[+] A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. [-]
junctional epidermolysis bullosa with pyloric atresia	Carmi syndrome; epidermolysis bullosa junctionalis.. [+] Carmi syndrome; epidermolysis bullosa junctionalis with pyloric atresia; JEB-PA; junctional epidermolysis bullosa-pyloric atresia syndrome [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. [-]
Pendred Syndrome	congenital hypothyroidism due to dyshormonogenesis.. [+] congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; genetic defect in thyroid hormonogenesis 2B; goiter-deafness syndrome; TDH2B; thyroid dyshormonogenesis 2B [-]	An autosomal recessive disease characterized by bi..[+] An autosomal recessive disease characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. [-]
basal laminar drusen	cuticular drusen; drusen of bruch membrane; early .. [+] cuticular drusen; drusen of bruch membrane; early adult-onset grouped drusen [-]	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. [-]
autosomal recessive Robinow syndrome	COVESDEM syndrome; costovertebral segmentation def.. [+] COVESDEM syndrome; costovertebral segmentation defect-mesomelia syndrome; RRS [-]	A Robinow syndrome characterized by autosomal rece..[+] A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. [-]
Smith-Magenis syndrome	chromosome 17p11.2 deletion syndrome; 17p11.2 micr.. [+] chromosome 17p11.2 deletion syndrome; 17p11.2 microdeletion syndrome [-]	A chromosome deletion syndrome characterized by mi..[+] A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. [-]
dextro-looped transposition of the great arteries	congenitally uncorrected transposition of the grea.. [+] congenitally uncorrected transposition of the great vessels; congenitally uncorrected transposition of the great arteries; D-TGA; isolated ventriculoarterial discordance; ventriculoarterial discordance with atrioventricular concordance [-]	A congenital heart disease characterized by comple..[+] A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. [-]
microvillus inclusion disease	congenital microvillus atrophy; congenital familia.. [+] congenital microvillus atrophy; congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Davidson disease; diarrhea 2 with microvillus atrophy; intractable diarrhea of infancy; MVD [-]	A congenital diarrhea characterized by onset of in..[+] A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. [-]
syndromic X-linked intellectual disability Cabezas type	Cabezas syndrome; syndromic X-linked mental retard.. [+] Cabezas syndrome; syndromic X-linked mental retardation 15; mental retardation, X-linked, syndromic 15 (Cabezas type); MRSS; MRXS15; MRXSC; X-linked mental retardation with short stature; X-linked mental retardation with short stature, hypogonadism, and abnormal gait [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. [-]

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