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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00683 | Anonychia congenita | Nonsyndromic anonychia is a condition in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling ... | Congenital malformation | |
| H00684 | Pachyonychia congenita | Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar ... | Congenital malformation | |
| H00685 |
Bifid nose with or without anorectal and renal anomalies BNAR syndrome |
BNAR syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations. Patients have renal agenesis, anorectal malformations ranging from anteriorly placed ... | Congenital malformation | |
| H00686 | Manitoba oculotrichoanal syndrome | Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies ... | Congenital malformation | |
| H00687 | Fraser syndrome | Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities ... | Congenital malformation | |
| H00688 | Familial advanced sleep phase syndrome | Familial advanced sleep phase syndrome (FASPS) is characterized by a stable sleep schedule with a 4-hour advance than the conventional or desired time. FASPS is associated with mutations in PER2, whose ... | Nervous system disease | |
| H00689 | Delayed sleep phase disorder | Delayed sleep phase disorder (DSPD) is characterized by a 3 to 6-hour delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase ... | Nervous system disease | |
| H00690 |
Aland Island eye disease Forsius-Eriksson syndrome |
Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation | Nervous system disease | |
| H00691 |
Bullous congenital ichthyosiform erythroderma (BCIE) Epidermolytic hyperkeratosis (EHK) |
Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick ... | Congenital malformation | |
| H00692 |
Lowe syndrome Oculocerebrorenal Dystrophy (OCRL) |
Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by ... | Inherited metabolic disorder | |
| H00693 | Ichthyosis bullosa of Siemens | Ichthyosis Bullosa of Siemens (IBS) is an autosomal dominant disorder characterized by mild hyperkeratosis and blister formation. The blistering is superficial, and areas of peeling of the skin are known ... | Congenital malformation | |
| H00694 | Dent disease | Dent disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and ... | Urinary system disease | |
| H00695 |
Mal de Meleda Meleda disease |
Mal de Meleda is an autosomal recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal ... | Congenital malformation | |
| H00696 |
Haim-Munk syndrome Keratosis palmoplantaris periodontopathia onychogryposis |
Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly ... | Congenital malformation | |
| H00697 | X-linked myopathy with postural muscle atrophy | X-linked myopathy with postural muscle atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic ... | Nervous system disease; Musculoskeletal disease | |
| H00698 | Nemaline myopathy | Nemaline myopathy (NM) is the most common congenital myopathy inherited in an autosomal dominant or autosomal recessive manner. It is characterized by the presence of rods or nemaline bodies, which are ... | Nervous system disease; Musculoskeletal disease | |
| H00699 | Central core disease | Central core disease (CCD) is an inherited neuromuscular disorder characterized by central cores on muscle biopsy and clinical features of a congenital myopathy. CCD is usually inherited as an autosomal ... | Nervous system disease; Musculoskeletal disease | |
| H00700 | Centronuclear myopathy | Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic ... | Nervous system disease; Musculoskeletal disease | |
| H00701 | Congenital fiber type disproportion | Congenital fiber type disproportion (CFTD) is a relatively rare subtype of congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence ... | Nervous system disease; Musculoskeletal disease | |
| H00702 | Cap myopathy | Cap myopathy is a rare congenital myopathy morphologically characterized by the presence of cap-like structures which are sharply demarcated structures of disorganized thin filaments in the periphery of ... | Nervous system disease; Musculoskeletal disease | |
| H00703 |
Myosin storage myopathy Hyaline body myopathy |
Myosin storage myopathy (MSM), also called hyaline body myopathy, is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle ... | Nervous system disease; Musculoskeletal disease | |
| H00704 | Oculopharyngeal muscular dystrophy | Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions ... | Nervous system disease; Musculoskeletal disease | |
| H00705 | Myotonia congenita | Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal ... | Nervous system disease; Musculoskeletal disease | |
| H00706 | Bart-Pumphrey syndrome | Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding ... | Congenital malformation | |
| H00707 | Ichthyosis hystrix | Ichthyosis hystrix is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such ... | Congenital malformation | |
| H00708 | Naegeli-Franceschetti-Jadassohn syndrome | Naegeli-Franceschetti-Jadassohn syndrome (NFJ) is a rare autosomal dominant disorder characterized by complete absence of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma ... | Congenital malformation | |
| H00709 |
Birk Barel mental retardation syndrome (BBMRS) Birk-Barel syndrome (BIBAS) |
Birk Barel mental retardation syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease ... | Congenital malformation | |
| H00710 | Erythrokeratodermia variabilis | Erythrokeratoderma variabilis is a rare genodermatosis characterized by both transient, demarcated erythema and persistent hyperkeratosis. Lesions usually appear within the first year of life but may arise ... | Congenital malformation | |
| H00711 |
Russell-Silver syndrome Silver-Russell syndrome |
Russell-Silver syndrome, also known as Silver-Russell syndrome (SRS), is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular ... | Congenital malformation | |
| H00712 | KID/HID syndrome | Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with ... | Congenital malformation | |
| H00713 | Beckwith-Wiedemann syndrome | Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in ... | Congenital malformation | |
| H00714 | Vohwinkel syndrome | Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading ... | Congenital malformation | |
| H00715 |
Darier disease Dyskeratosis follicularis |
Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and ... | Congenital malformation | |
| H00716 | Palmoplantar keratoderma with deafness | Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel ... | Congenital malformation | |
| H00717 | Striate palmoplantar keratoderma | Striate palmoplantar keratoderma (SPPK) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of volar aspects of the fingers and on the palm as well as by focal hyperkeratosis ... | Congenital malformation | |
| H00718 | Sotos syndrome | Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome ... | Congenital malformation | |
| H00719 |
Leprechaunism Donohue syndrome |
Leprechaunism (Donohue syndrome, DS) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly ... | Endocrine and metabolic disease | |
| H00720 | Long QT syndrome | Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity ... | Cardiovascular disease | |
| H00721 | Pyogenic bacterial infections, recurrent, due to MYD88 deficiency | Autosomal recessive MyD88 deficiency predisposes affected patients to recurrent pyogenic bacterial infections, including invasive pneumococcal disease. The patients are resistant to other microbes. | Immune system disease | |
| H00722 | Epidermolytic palmoplantar keratoderma | Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow ... | Congenital malformation |
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