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Disease	Synonyms	Description	Articles	Phenotypes
scrub typhus	Kedani fever; Chigger-borne rickettsiosis; Chigger.. [+] Kedani fever; Chigger-borne rickettsiosis; Chigger-borne typhus; Japanese river fever; Mite-borne rickettsiosis; Mite-borne typhus; Scrub (mite-borne) typhus; Scrub mite-borne typhus; Tropical typhus; Tsutsugamushi; Tsutsugamushi disease; Tsutsugamushi fever; Typhus fever due to Rickettsia tsutsugamushi [-]	A typhus that has_material_basis_in Orientia tsuts..[+] A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. [-]
boutonneuse fever	kenya tick typhus; Kenyan tick typhus; Kenya fever.. [+] Kenyan tick typhus; kenya tick typhus; Kenya fever; african tick typhus; African tick typhus (disorder); Boutonneuse disease; Conor and Bruch's disease; marseilles fever; Mediterranean spotted fever; Mediterranean tick fever; Rickettsia conorii spotted fever; South African tick-bite fever (disorder) [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
propionic acidemia	KETOTIC HYPERGLYCINEMIA; ketotic II glycinemia; ke.. [+] ketotic II glycinemia; KETOTIC HYPERGLYCINEMIA; ketotic glycinemia; GLYCINEMIA, KETOTIC; propionic aciduria; propionyl-CoA carboxylase deficiency [-]	An organic acidemia that involes a nonfunctional p..[+] An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. [-]
FG syndrome	Keller syndrome; Opitz-Kaveggia syndrome	An X-linked disease characterized by retardation, ..[+] An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. [-]
brittle cornea syndrome 1	Kyphoscoliosis type; brittle cornea syndrome 2; ty.. [+] Kyphoscoliosis type; brittle cornea syndrome 2; type VIB Ehlers-Danlos syndrome [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. [-]
familial partial lipodystrophy	Koberling-Dunnigan Syndrome; Dunnigan Syndrome	A lipodystrophy characterized by abnormal subcutan..[+] A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. [-]
intestinal schistosomiasis	Katayama fever; Schistosoma japonicum infection; S.. [+] Katayama fever; Schistosoma japonicum infection; Schistosoma mansoni infectious disease; schistosomiasis japonica [-]	A schistosomiasis that involves parasitic infectio..[+] A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. [-]
Bart-Pumphrey syndrome	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFN.. [+] KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS [-]	n_a
spondyloepiphyseal dysplasia with congenital joint dislocations	Kozlowski Celermajer Tink syndrome; CHONDRODYSPLAS.. [+] Kozlowski Celermajer Tink syndrome; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CHST3-Related Skeletal Dysplasia; Humero-spinal dysostosis with congenital heart disease; Humerospinal Dysostosis; Humerospinal dysostosis; 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. [-]
hyperekplexia	Kok disease; congenital stiff man syndrome; famili.. [+] Kok disease; congenital stiff man syndrome; familial startle disease; hereditary hyperekplexia; 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. [-]
mal de Meleda	keratosis palmoplantaris transgrediens of Siemens; .. [+] keratosis palmoplantaris transgrediens of Siemens; Meleda disease; transgrediens palmoplantar keratoderma of Siemens [-]	A palmoplantar keratosis characterized by autosoma..[+] A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. [-]
Peters plus syndrome	Krause-Kivlin syndrome; Peters anomaly-short limb .. [+] Krause-Kivlin syndrome; Peters anomaly-short limb dwarfism syndrome; Peters-plus syndrome [-]	A syndrome that is characterized by anterior chamb..[+] A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. [-]
developmental and epileptic encephalopathy 7	KCNQ2-related neonatal epileptic encephalopathy; K.. [+] KCNQ2-related neonatal epileptic encephalopathy; KCNQ2-related epileptic encephalopathy; early infantile epileptic encephalopathy 7 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. [-]
autosomal dominant nonsyndromic deafness 1	Konigsmark syndrome; autosomal dominant deafness 1.. [+] Konigsmark syndrome; autosomal dominant deafness 1; DFNA1; hereditary low frequency hearing loss 1; LFHL1; autosomal dominant deafness 1, with or without thrombocytopenia [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. [-]
hereditary spastic paraplegia 15	Kjellin syndrome; autosomal recessive spastic para.. [+] Kjellin syndrome; autosomal recessive spastic paraplegia 15; autosomal recessive spastic paraplegia type 15; hereditary spastic paraparesis type 15; spastic paraplegia and retinal degeneration; spastic paraplegia-retinal degeneration syndrome; SPG15 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. [-]
Waardenburg syndrome type 3	Klein-Waardenburg syndrome; Waardenburg syndrome t.. [+] Klein-Waardenburg syndrome; Waardenburg syndrome type III; Waardenburg syndrome with upper limb anomalies; WS3 [-]	A Waardenburg syndrome characterized by upper limb..[+] A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. [-]
palmoplantar keratoderma and congenital alopecia 1	keratoderma-hypotrichosis-leukonychia totalis synd.. [+] keratoderma-hypotrichosis-leukonychia totalis syndrome; autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; autosomal dominant palmoplantar keratoderma and congenital alopecia; palmoplantar keratoderma and congenital alopecia, Stevanovic type; PPK-CA, Stevanovic type; PPKCA Stevanovic type; PPKCA1 [-]	An ectodermal dysplasia characterized by autosomal..[+] An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. [-]
neurogenic scapuloperoneal syndrome Kaeser type	Kaeser syndrome; scapuloperoneal syndrome type Kae.. [+] Kaeser syndrome; scapuloperoneal syndrome type Kaeser; scapuloperoneal syndrome, neurogenic, Kaeser type; Stark-Kaeser syndrome [-]	A myopathy characterized by adult onset of foot do..[+] A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. [-]
severe congenital neutropenia 3	Kostmann disease; Kostmann syndrome; infantile agr.. [+] Kostmann syndrome; Kostmann disease; infantile agranulocytosis; SCN3 [-]	A severe congenital neutropenia characterized by b..[+] A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. [-]

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