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Entry Name Description Category Pathway Gene
H00166 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding. Inherited metabolic disorder (HPS1) HPS1 [HSA:3257] [KO:K20193]
(HPS2) AP3B1 [HSA:8546] [KO:K12397]
(HPS3) HPS3 [HSA:84343] [KO:K20190]
(HPS4) HPS4 [HSA:89781] [KO:K20194]
(HPS5) HPS5 [HSA:11234] [KO:K20191]
(HPS6) HPS6 [HSA:79803] [KO:K20192]
(HPS7) DTNBP1 [HSA:84062] [KO:K20189]
(HPS8) BLOC1S3 [HSA:388552] [KO:K20186]
(HPS9) BLOC1S6 [HSA:26258] [KO:K20188]
(HPS10) AP3D1 [HSA:8943] [KO:K12396]
(HPS11) BLOC1S5 [HSA:63915] [KO:K20187]
H00595 Myofibrillar myopathies Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can ... Nervous system disease; Musculoskeletal disease (MFM1) DES [HSA:1674] [KO:K07610]
(MFM2) CRYAB [HSA:1410] [KO:K09542]
(MFM3) MYOT [HSA:9499] [KO:K19875]
(MFM4) LDB3 [HSA:11155] [KO:K19867]
(MFM5) FLNC [HSA:2318] [KO:K27393]
(MFM6) BAG3 [HSA:9531] [KO:K09557]
(MFM7) KY [HSA:339855] [KO:K24456]
(MFM8) PYROXD1 [HSA:79912] [KO:K24426]
(MFM9) TTN [HSA:7273] [KO:K12567]
(MFM10) SVIL [HSA:6840] [KO:K10369]
(MFM11) UNC45B [HSA:146862] [KO:K21991]
(MFM12) MYL2 [HSA:4633] [KO:K10351]
H00600 Mullerian agenesis
Mayer Rokitansky Kuster Hauser syndrome 		Mullerian agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It ... Reproductive system disease WNT4 [HSA:54361] [KO:K00408]
H00689 Delayed sleep phase disorder ... delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase (AANAT), a rate-limiting enzyme in melatonin synthesis, has been identified ... Nervous system disease CRY1 [HSA:1407] [KO:K02295]
H00707 Ichthyosis hystrix, Curth-Macklin type Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities ... Congenital malformation KRT1 [HSA:3848] [KO:K07605]
H00752 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme ... Congenital malformation TP63 [HSA:8626] [KO:K10149]
H00762 Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia, Omani type 		... dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation ... Congenital malformation CHST3 [HSA:9469] [KO:K01020]
H00765 Spondyloepiphyseal dysplasia, Kimberley type ... dysplasia (SED) with early-onset arthropathy. The phenotype of the disease is short stature and stocky build due to flattened vertebral bodies. Aggrecan, the protein of the proteoglycan of cartilage, is ... Congenital malformation ACAN [HSA:176] [KO:K06792]
H00802 Ehlers-Danlos syndrome ... (EDSVASC), hypermobility type (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural ... Congenital malformation (EDSCL1) COL5A1 [HSA:1289] [KO:K19721]
(EDSCL2) COL5A2 [HSA:1290] [KO:K19721]
(EDSCLL) TNXB [HSA:7148] [KO:K06252]
(EDSCLL2) AEBP1 [HSA:165] [KO:K21392]
H00868 Stapes ankylosis with broad thumb and toes This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms ... Congenital malformation NOG [HSA:9241] [KO:K04658]
H00872 Trismus-pseudocamptodactyly syndrome
Hecht-Beals syndrome
Dutch-Kentucky syndrome 		Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly ... Congenital malformation MYH8 [HSA:4626] [KO:K24220]
H00909 Cleft palate with ankyloglossia Cleft palate with ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female ... Congenital malformation TBX22 [HSA:50945] [KO:K10186]
H00953 Gelatinous drop-like corneal dystrophy
Corneal amyloidosis 		... corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first decade ... Nervous system disease TACSTD2 [HSA:4070] [KO:K17288]
H00958 Congenital stromal corneal dystrophy
Congenital hereditary stromal dystrophy
Witschel dystrophy 		Congenital stromal corneal dystrophy (CSCD) is a rare condition characterized by numerous opaque flaky or feathery clouding of the corneal stroma. The flakes and spots become more numerous with age and ... Nervous system disease DCN [HSA:1634] [KO:K04660]
H00963 Congenital hereditary endothelial dystrophy ... characterized by bilateral symmetric corneal clouding (edema) with varied severity from mild opacification to milky, ground-glass opacification without other anterior segment abnormalities, usually evident at birth ... Nervous system disease SLC4A11 [HSA:83959] [KO:K13862]
H00980 Nevo syndrome Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. Congenital malformation PLOD [HSA:5351] [KO:K00473]
H01155 Roussy-Levy syndrome ... ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis, and sensory loss. The RLS subtype is not genetically homogeneous. RLS has been described ... Nervous system disease MPZ [HSA:4359] [KO:K06770]
PMP22 [HSA:5376] [KO:K19289]
H01322 Kyasanur Forest disease Kyasanur Forest disease is a viral hemorrhagic fever caused by Kyasanur Forest disease virus (KFDV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Ixodoidea ticks. KFDV ... Viral infectious disease
H01425 Lysosomal storage disease ... Sialuria, Danon disease 5. Defects in lysosomal trafficking: Niemann-Pick disease type C, Mucolipidosis II, III, and IV, Neuronal ceroid lipofuscinosis, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome Inherited metabolic disorder
H01461 Crow-Fukase syndrome
POEMS syndrome 		... but it is not likely the sole factor driving the disease. The most commonly used therapies include alkylators and steroids, high-dose chemotherapy with peripheral blood stem cell transplantation, lenalidomide ... Neoplasm
H01494 SEMD with joint laxity type ... vertebral abnormalities, ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. The individuals ... Congenital malformation (SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734]
(SEMDJL2) KIF22 [HSA:3835] [KO:K10403]
(SEMDJL3) EXOC6B [HSA:23233] [KO:K19985]
H01507 Seronegative arthritis ... in common several epidemiological, pathological, clinical, and radiological features. SpA include ankylosing spondylitis (AS), reactive arthritis (ReA), enteropathic (IBD) associated arthritis, psoriatic ... Immune system disease HLA-B [HSA:3106] [KO:K06751]
H01560 Alkhumra hemorrhagic fever ... Ixodoidea ticks. AHFV was first isolated in 1994-1995 in the Al Khumra district, Jeddah, Saudi Arabia. Full genome sequencing has indicated that AHFV is a distinct variant of Kyasanur Forest disease virus. Viral infectious disease
H01583 Hydroxykynureninuria
Xanthurenic aciduria
Kynureninase deficiency 		Hydroxykynureninuria, also known as xanthurenic aciduria is autosomal recessive disorder of tryptophan metabolism. It is characterized by excessive output of xanthutrenic acid, 3-hydroxykynurenine, and ... Inherited metabolic disorder KYNU [HSA:8942] [KO:K01556]
H01656 Psoriasis ... epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are itchy, scaly, and flaky skin, swelling, pain, and disfiguring skin lesions. Plaque psoriasis is the most common form. Other ... Immune system disease; Skin disease (PSORS1) HLA-C [HSA:3107] [KO:K06751]
(PSORS2) CARD14 [HSA:79092] [KO:K20913]
(PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124]
(PSORS14) IL36RN [HSA:26525] [KO:K05483]
(PSORS15) AP1S3 [HSA:130340] [KO:K12395]
H01674 Ankylosing spondylitis
Bechterew disease 		Ankylosing spondylitis (AS), formerly also known as Bechterew's disease, is a rheumatic disease of the axial skeleton that mainly affects the spine and the sacroiliac joint in the pelvis. AS is one of ... Musculoskeletal disease HLA-B [HSA:3106] [KO:K06751]
H01707 Ossified ligamentum flavum
Ossification of the yellow ligament 		... canal and leads to myeloradiculopathy. The lower thoracic spine is most commonly affected. Previous hyperkyphosis and mechanical stress are thought to be predisposing conditions. It is tempting to think that ... Musculoskeletal disease
H01708 Diffuse idiopathic skeletal hyperostosis
Forestier disease
Ankylosing hyperostosis
Ossification of the anterior longitudinal ligament 		Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier disease, is a systemic noninflammatory disease characterized by ossification of the entheses. It affects mainly elderly men, and ... Musculoskeletal disease
H01756 Pfeiffer syndrome ... outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type ... Congenital malformation FGFR1 [HSA:2260] [KO:K04362]
FGFR2 [HSA:2263] [KO:K05093]
H01804 Isaacs syndrome ... muscle fibre activity resulting from peripheral nerve hyper excitability. Symptoms commonly include myokymia, pseudomyotonia, muscle cramps and stiffness. It is caused by voltage-gated potassium channel dysfunction ... Nervous system disease; Musculoskeletal disease
H01916 Stocco dos Santos X-linked mental retardation syndrome ... hyperactivity and seizures. Clinical features include congenital bilateral hip luxation, short stature, and kyphosis. Mutations in the SHROOM4 gene, implicated in neural development, cause this disease. Congenital malformation SHROOM4 [HSA:57477] [KO:K18625]
H01917 CK syndrome ... including aggression, attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. CK syndrome is caused by mutations in NSDHL, a gene that encodes an enzyme in the cholesterol ... Congenital malformation NSDHL [HSA:50814] [KO:K07748]
H01918 Familial autosomal recessive hypercholesterolemia ... develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1) ... Inherited metabolic disorder LDLRAP1 [HSA:26119] [KO:K12474]
H01927 Van der Woude syndrome ... with hypodontia. The other associated features of VWS which may or may not be present are hypoplasia, ankyloglossia, high arched palate, limb anomalies, congenital heart defects, and so forth. Popliteal pterygium ... Congenital malformation (VWS1) IRF6 [HSA:3664] [KO:K10154]
(VWS2) GRHL3 [HSA:57822] [KO:K09275]
H01931 Lethal-type popliteal pterygium syndrome
Bartsocas-Papas syndrome (BPS) 		... autosomal-dominant form. LPPS is characterised by multiple popliteal pterygia, cutaneous syndactyly, lack of nails, ankyloblepharon, filiform bands between the jaws, hypoplastic external genitalia, cleft lip and/or palate ... Congenital malformation (BPS1) RIPK4 [HSA:54101] [KO:K08848]
(BPS2) CHUK [HSA:1147] [KO:K04467]
H02084 Native American myopathy ... of North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM Nervous system disease; Musculoskeletal disease STAC3 [HSA:246329] [KO:K23713]
H02087 Vertebral, cardiac, renal, and limb defects syndrome
Congenital NAD deficiency disorder 		Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis ... Inherited metabolic disorder (VCRL1) HAAO [HSA:23498] [KO:K00452]
(VCRL2) KYNU [HSA:8942] [KO:K01556]
(VCRL3) NADSYN1 [HSA:55191] [KO:K01950]
H02128 Defects in lysosomal trafficking ... lysosomal protein trafficking. Mucolipidosis IV affects the LDL-receptor mediated endocytosis pathway. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are disorders of vesicle formation and trafficking. Inherited metabolic disorder
H02165 Colorado tick fever ... tick fever virus (CTFV), a cortivirus in the Reoviridae family of dsRNA viruses, and transmitted by Rocky Mountain wood tick (Dermacentor andersoni). CTFV was first isolated in 1944 in the Rocky Mountain ... Viral infectious disease
H02184 Metatropic dysplasia ... autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia ... Congenital malformation TRPV4 [HSA:59341] [KO:K04973]
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