Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... |
OMIM:610599 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Bardet-Biedl Syndrome 13 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:615990 |
Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis |
OMIM:184300 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... |
OMIM:180210 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology |
ORPHA:1852 |
Choroideremia |
|
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... |
OMIM:303100 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... |
OMIM:608051 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Retinitis Pigmentosa 39 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613809 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... |
OMIM:607921 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Keloids, Hyperkeratotic papule, Oral mucosal blisters, Atypical scarring of skin, Carious teeth, ... |
ORPHA:79410 |
Gluteal Muscles, Absence Of |
|
Spina bifida occulta, Scoliosis |
OMIM:231970 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... |
OMIM:610359 |
Persistent Placoid Maculopathy |
|
Choroidal neovascularization, Retinal pigment epithelial mottling, Abnormal macular morphology, H... |
ORPHA:97341 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Sacral dimple, Anencephaly, Absence of the sacrum, Asymmetry of spinal facet jo... |
OMIM:182940 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... |
ORPHA:59181 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells |
OMIM:615607 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinitis Pigmentosa 47 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy |
OMIM:613758 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Isotretinoin Syndrome |
|
Spina bifida occulta, Depressed nasal bridge, Sacral dimple, Cleft palate |
ORPHA:2305 |
Familial Drusen |
|
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... |
ORPHA:75376 |
Retinoschisis, Autosomal Dominant |
|
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration |
OMIM:180270 |
Central Areolar Choroidal Dystrophy |
|
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... |
ORPHA:75377 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... |
OMIM:618889 |
Acrofacial Dysostosis, Palagonia Type |
|
Cleft upper lip, Oligodontia, Unilateral cleft lip, Hypoplasia of the odontoid process, Aplasia c... |
OMIM:601829 |
Anencephaly 2 |
|
Cleft of alveolar ridge of maxilla, Median cleft palate, Anencephaly, Bifid nose, Median cleft lip |
OMIM:619452 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... |
OMIM:609913 |
Stargardt Disease 1 |
|
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration |
OMIM:248200 |
Palant Cleft Palate Syndrome |
|
Exaggerated cupid's bow, Bulbous nose, Cleft palate |
OMIM:260150 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Darier Disease |
|
Anal mucosal leukoplakia, Acrokeratosis, Plantar pits, Macule, Hypermelanotic macule, Skin vesicle |
ORPHA:218 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... |
OMIM:613428 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy |
OMIM:172870 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:606068 |
Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
Retinitis Pigmentosa 61 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:614180 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613801 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Short neck, Hyperlordosis, Wide nasal bridge, Scoliosis, Spina bifida... |
ORPHA:1797 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Sprengel Deformity |
|
Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae |
OMIM:184400 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 76 |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Retinitis Pigmentosa 76 |
|
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... |
OMIM:617123 |
Van Der Woude Syndrome 2 |
|
Anodontia, Cleft upper lip, Cleft palate |
OMIM:606713 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
Immunodeficiency 104 |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly |
OMIM:608971 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Retinitis Pigmentosa 17 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:600852 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... |
OMIM:600138 |
Dowling-Degos Disease |
|
Epidermoid cyst, Digital pitting scar, Hypopigmented macule, Anal margin squamous cell carcinoma,... |
ORPHA:79145 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate, Hydrocephalus |
OMIM:258320 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the thymus, Decreased proportion of CD4-positive helper T cells, Absent tonsils, D... |
OMIM:611926 |
Erythema Elevatum Diutinum |
|
Skin nodule, Skin vesicle |
ORPHA:90000 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Nasal polyposis, Skin tags, Median cleft lip |
OMIM:155145 |
Acrofacial Dysostosis, Palagonia Type |
|
Short neck, Abnormal form of the vertebral bodies, Dermal atrophy, Bulbous nose, Oligodontia, Uni... |
ORPHA:1787 |
Retinitis Pigmentosa 7 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retin... |
OMIM:608133 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae, Facial erythema, Erythematous plaque, Palmoplantar erythema, Erythematous papul... |
ORPHA:64745 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... |
OMIM:618826 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Pemphigus Foliaceus |
|
Abnormal oral mucosa morphology, Annular cutaneous lesion, Erythema, Erythematous plaque, Serpigi... |
ORPHA:79481 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:180104 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... |
OMIM:619007 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Dermatitis Herpetiformis |
|
Erythema, Macule, Malabsorption, Edema, Skin vesicle |
ORPHA:1656 |
Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Carious teeth, Preauricular pit |
OMIM:101805 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Abnormal oral mucosa morphology |
ORPHA:254478 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Pai Syndrome |
|
Bifid uvula, Nasal polyposis, Subcutaneous nodule, Depressed nasal bridge, Midline defect of the ... |
ORPHA:1993 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Spina bifida occulta, Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus |
OMIM:183802 |
Acropectorovertebral Dysplasia |
|
Spina bifida occulta at S1, Abnormal vertebral morphology, Spina bifida occulta at L5 |
OMIM:102510 |
Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia |
ORPHA:169079 |
Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... |
OMIM:614500 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... |
ORPHA:827 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular pit, Wide nose, Tracheoesophageal fistula, Esophageal atresia, Choanal atresia, Subm... |
OMIM:619227 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... |
ORPHA:85128 |
Familial Benign Chronic Pemphigus |
|
Erythema, Skin vesicle, Skin erosion |
ORPHA:2841 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy |
OMIM:619445 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... |
ORPHA:444463 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina b... |
OMIM:613686 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy |
OMIM:312612 |
Fountain Syndrome |
|
Abnormal palate morphology, Kyphosis, Abnormal form of the vertebral bodies, Facial edema, Everte... |
ORPHA:3219 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Papule, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Skin v... |
ORPHA:257 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... |
ORPHA:169154 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Papule, Wide nasal bridge, Skin vesicle, Scoliosis, Gingivitis, Abnorm... |
ORPHA:2314 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... |
OMIM:615513 |
Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula |
OMIM:601492 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... |
OMIM:618613 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short neck, Abnormal vertebral morphology, Thin upper lip vermilion, Anteverted nares, Cleft pala... |
ORPHA:2015 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Cystoid macular degeneration, Pigmentary retinopathy |
OMIM:611131 |
Pyoderma Gangrenosum |
|
Papule, Inflammation of the large intestine, Skin ulcer, Skin vesicle, Atrophic scars |
ORPHA:48104 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Retinitis Pigmentosa 45 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration |
OMIM:613767 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pierre-Robin sequence, High palate, Long philtrum, Everted lower lip vermilion, Spondylolisthesis... |
OMIM:617877 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Lymphadenopat... |
ORPHA:100024 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... |
OMIM:601718 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Lattice retinal degeneration, Retinal detachment |
OMIM:150500 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... |
ORPHA:411527 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... |
OMIM:617514 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Abnormality of the dentition, Scoliosis, Dry skin |
ORPHA:177 |
Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Nevus flammeus, Spina bifida, Scoliosis, Spina bifida occulta, Comedo |
ORPHA:64754 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
Multiple Intestinal Atresia |
|
Duodenal stenosis, Gastrointestinal atresia |
ORPHA:2300 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... |
OMIM:619126 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
Wells Syndrome |
|
Edema, Skin vesicle |
ORPHA:901 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... |
OMIM:618144 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia |
OMIM:269600 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Long philtrum, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2311 |
Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Short philtrum, Short neck, Kyphosis, Spina bifida occulta, Thin vermilion border, Downturned cor... |
ORPHA:2983 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, R... |
OMIM:251270 |
Hypertelorism And Tetralogy Of Fallot |
|
Spina bifida occulta, Depressed nasal bridge, Long philtrum |
OMIM:239711 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... |
OMIM:615285 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Clubbing of fingers,... |
OMIM:618982 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... |
ORPHA:41751 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Neutropenia, Monocytosis, B lymphocytopenia |
OMIM:613107 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Splenomegaly, Diaphyseal ... |
ORPHA:1802 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Optic atrophy, Pigmentary retinopathy |
OMIM:610951 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... |
ORPHA:231154 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:180100 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
Hennekam-Beemer Syndrome |
|
High palate, Long nose, Thick lower lip vermilion, Papule, Erythema, Wide nasal bridge, Macule, S... |
ORPHA:2135 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Underdeveloped nasal alae, Aplasia cutis congenita, Polyhydramnios, Neonatal death, Congenital py... |
OMIM:612138 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Lymphadenitis, Autoimmune thrombocytopenia,... |
ORPHA:911 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... |
OMIM:150550 |
Immunodeficiency 13 |
|
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:615518 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Microphthalmia, Isolated 5 |
|
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cystoid ... |
OMIM:611040 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Iga Pemphigus |
|
Oral mucosal blisters, Annular cutaneous lesion, Ulcerative colitis, Skin plaque, Skin vesicle, S... |
ORPHA:555905 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Bifid uvula, Delayed eruption of teeth, Hyperlordosis, Wide nasal bridge, High, narrow palate, Su... |
ORPHA:2780 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
White Forelock With Malformations |
|
Spina bifida occulta, Abnormal palate morphology, Deep philtrum |
ORPHA:2475 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy |
OMIM:614307 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... |
OMIM:612095 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Palmoplantar cutis laxa, Cleft upper lip, Cleft palate |
OMIM:268850 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment |
ORPHA:35737 |
Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... |
ORPHA:277 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Achromatopsia |
|
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... |
ORPHA:49382 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Long philtrum, Thin upper lip vermilion, Cleft soft palate, Kyphoscoliosis, Depres... |
OMIM:616331 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency 64 |
|
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Clubbing of fingers, Autoimmune thrombocytopenia, Aut... |
OMIM:618534 |
Acrocraniofacial Dysostosis |
|
Preauricular pit, Short philtrum, Abnormal form of the vertebral bodies, Choanal atresia, Promine... |
ORPHA:949 |
Arthrogryposis, Distal, Type 2A |
|
Narrow mouth, High palate, Short neck, Long philtrum, Underdeveloped nasal alae, Wide nasal bridg... |
OMIM:193700 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... |
ORPHA:543 |
Arthrogryposis, Distal, Type 1C |
|
Narrow mouth, High palate, Bifid uvula, Short neck, Cleft lip, Pursed lips, Scoliosis, Increased ... |
OMIM:619110 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... |
OMIM:614470 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Erythema migrans, Skin vesicle |
ORPHA:158681 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria |
OMIM:602079 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Spina bifida occulta, Anteverted nares, Downturned corners of mouth, Short nose, Thick vermilion ... |
ORPHA:1185 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... |
OMIM:603554 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy |
OMIM:612572 |
Retinitis Pigmentosa 74 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy |
OMIM:616562 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatic steatosis, Ascites, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic tr... |
OMIM:301045 |
Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
Burn-Mckeown Syndrome |
|
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Bilateral ... |
OMIM:608572 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth |
OMIM:119540 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis |
OMIM:613102 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula |
ORPHA:2669 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... |
OMIM:613756 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... |
OMIM:300853 |
Immunodeficiency 68 |
|
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Parietal Foramina 1 |
|
Cleft upper lip, Cleft palate, Encephalocele, Aplasia cutis congenita of scalp |
OMIM:168500 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice |
OMIM:206400 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, Tethered cord |
OMIM:615281 |
Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
Cone-Rod Dystrophy 3 |
|
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... |
OMIM:604116 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Narrow nasal bridge, Short nose |
ORPHA:1514 |
Three M Syndrome 1 |
|
Short neck, Long philtrum, Increased vertebral height, Thick lower lip vermilion, Hyperlordosis, ... |
OMIM:273750 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... |
OMIM:607594 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of r... |
OMIM:204100 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Open bite, Striae distensae, Depressed nasal ridge, Short columella, Microdon... |
ORPHA:1248 |
Coffin-Siris Syndrome 11 |
|
High palate, Bifid uvula, Bulbous nose, Cleft soft palate, Esophageal atresia, Depressed nasal br... |
OMIM:618779 |
Retinitis Pigmentosa 83 |
|
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... |
OMIM:618173 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells |
OMIM:613500 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... |
ORPHA:215 |
Acrofacial Dysostosis, Catania Type |
|
Preauricular pit, Abnormal palate morphology, Carious teeth, Spina bifida occulta, Smooth philtru... |
ORPHA:1786 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... |
OMIM:619375 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Proteinuria, Impaired lymphocyte transformation with... |
OMIM:617006 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Nephrotic syndrome, Elevated circulat... |
OMIM:615559 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... |
ORPHA:79435 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow mouth, Intestinal lymphangiectasia, Delayed eruption of teeth, Oligodontia, Wide nasal bri... |
OMIM:235510 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... |
OMIM:613810 |
Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, Drooling, High, narrow palate |
ORPHA:209908 |
Temple Syndrome |
|
Short philtrum, High palate, Bifid uvula, Scoliosis, Depressed nasal bridge, Hydrocephalus, Wide ... |
OMIM:616222 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Hypoplasia of the odontoid process, Wide nasal bridge, Kyphoscoliosis, Cleft palate |
OMIM:612913 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Absent nasal septal cartilage, Median cleft lip and palate, Depressed nas... |
OMIM:142946 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Bifid uvula, Cleft palate |
OMIM:618768 |
Immunodeficiency 69 |
|
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia |
OMIM:618963 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... |
OMIM:613581 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly |
OMIM:607685 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Townes-Brocks Syndrome 2 |
|
Spina bifida occulta, Rectovaginal fistula, Anal atresia, Scoliosis |
OMIM:617466 |
Stickler Syndrome, Type Ii |
|
Pierre-Robin sequence, Bifid uvula, High, narrow palate, Depressed nasal bridge, Anteverted nares... |
OMIM:604841 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Anemia, Long fibula, Abnormality of the metaphysis, Lymphopenia |
ORPHA:935 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Pigmentary retinopathy |
OMIM:275400 |
Immunodeficiency 57 With Autoinflammation |
|
T lymphocytopenia, B lymphocytopenia, Perianal abscess, Reduced natural killer cell count |
OMIM:618108 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Broad nasal tip, Bifid uvula, Kyphosis, Thick lower lip vermilion, Wide nasal bridge... |
OMIM:618658 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Broad nasal tip, Scoliosis, Cleft hard palate |
ORPHA:166016 |
Leukocyte Adhesion Deficiency Type Ii |
|
Depressed nasal ridge, Deep philtrum, Wide nasal bridge, Palpebral edema, Skin vesicle, Depressed... |
ORPHA:99843 |
Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... |
OMIM:133180 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:619313 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:618495 |
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
Polyhydramnios, Cleft palate, Choanal atresia |
OMIM:241850 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... |
OMIM:613617 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
Cleidocranial Dysplasia |
|
Abnormal sacrum morphology, Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary to... |
ORPHA:1452 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... |
OMIM:603552 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:614162 |
Kleefstra Syndrome 2 |
|
Scoliosis, Bifid uvula, Everted lower lip vermilion, Kyphosis |
OMIM:617768 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal atrophy, Retinal pigme... |
OMIM:145350 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Bifid uvula, Cleft palate |
ORPHA:506353 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... |
OMIM:602772 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Chorioretinal coloboma, Macular coloboma |
ORPHA:2196 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Bifid uvula, Cleft upper lip, Bulbous nose, Wide nasal bridge, Scoliosis, Anteverted nares, Cleft... |
OMIM:300958 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Esophagitis, Du... |
OMIM:619079 |
Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Bifid uvula, Kyphosis, Beaking of vertebral bodies, Platyspondyly, Submuco... |
OMIM:108300 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Oculoauriculofrontonasal Syndrome |
|
Narrow mouth, Bifid nasal tip, Underdeveloped nasal alae, Cleft lip, Scoliosis, Broad philtrum, P... |
ORPHA:398156 |
Hydrolethalus |
|
Bifid uvula, Unilateral cleft lip, Anencephaly, Submucous cleft hard palate, Abnormality of the s... |
ORPHA:2189 |
Czeizel-Losonci Syndrome |
|
High palate, Myelomeningocele, Tracheoesophageal fistula, Thoracolumbar scoliosis, Spina bifida, ... |
ORPHA:2437 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentar... |
OMIM:312600 |
Cone-Rod Dystrophy 8 |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Retinal arteriolar constrict... |
OMIM:605549 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta, Gastrointestinal hemorrhage |
ORPHA:230839 |
Osteopathia Striata With Cranial Sclerosis |
|
Pierre-Robin sequence, High palate, Bifid uvula, Cleft upper lip, Anal stenosis, Intestinal malro... |
OMIM:300373 |
Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Aganglionic megacolon, Abnormality of the small intestine, Enteroco... |
ORPHA:95427 |
Choanal Atresia And Lymphedema |
|
High palate, Lymphedema, Pericardial effusion, Choanal atresia |
OMIM:613611 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly |
OMIM:269840 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly, Abnormality of the metaphysis |
ORPHA:417 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy |
ORPHA:1897 |
8Q22.1 Microdeletion Syndrome |
|
Short neck, Long philtrum, Depressed nasal ridge, Skin dimple, Wide nasal bridge, Submucous cleft... |
ORPHA:178303 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphopenia |
OMIM:605309 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate |
OMIM:192445 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... |
OMIM:601859 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Distal Monosomy 10Q |
|
High palate, Wide nasal bridge, Anal atresia, Lumbar hyperlordosis, Prominent nasal bridge, Promi... |
ORPHA:96148 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Porphyria Variegata |
|
Ileus, Localized skin lesion, Back pain, Milia, Skin vesicle, Skin erosion |
ORPHA:79473 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Cleft soft palate, Platyspondyly, Scoliosis, Polyhydramnios,... |
ORPHA:93316 |
Niemann-Pick Disease, Type B |
|
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:607616 |
3Mc Syndrome |
|
Caudal appendage, Hyperlordosis, Scoliosis, Spina bifida occulta, Abnormal nasal morphology, Oral... |
ORPHA:293843 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Scoliosis |
OMIM:618736 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Preauricular pit, Submucous cleft hard palate, Branchial fistula, Preauricular sk... |
OMIM:609166 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... |
ORPHA:888 |
Van Esch-O'Driscoll Syndrome |
|
Spina bifida occulta, Scoliosis, Bifid uvula |
OMIM:301030 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy |
OMIM:180105 |
Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia |
OMIM:619281 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... |
OMIM:615234 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... |
ORPHA:331206 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal ilium morphology, Decreased proportion of CD4-positive helper T cells, Narrow greater sc... |
ORPHA:508533 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... |
ORPHA:158057 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Carpenter Syndrome 1 |
|
Preauricular pit, High palate, Agenesis of permanent teeth, Short neck, Sacral dimple, Scoliosis,... |
OMIM:201000 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Villous atrophy |
OMIM:600955 |
Craniosynostosis 6 |
|
Spina bifida occulta, Scoliosis |
OMIM:616602 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Eosinophilia, Diffuse mesangial sclerosis, Reduced red cell adenosine deaminase level, Abnormalit... |
OMIM:102700 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis |
OMIM:614480 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Immunodeficiency 92 |
|
Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosis, Hepatomegaly, B lymphocytopeni... |
OMIM:619652 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... |
ORPHA:2919 |
Limb Body Wall Complex |
|
Short umbilical cord, Abnormality of the vertebral column, Progressive congenital scoliosis, Myel... |
ORPHA:2369 |
Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of... |
OMIM:613464 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Bifid uvula, Open mouth, Thick lower lip vermilion, Supernumerary tooth, Submucous c... |
OMIM:617412 |
Bile Acid Malabsorption, Primary, 1 |
|
Fat malabsorption, Increased fecal bile acid, Steatorrhea |
OMIM:613291 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Vertebral segmentation defect, Long philtrum, Abnormality of the tongue, Scoliosis, ... |
ORPHA:2990 |
Babesiosis |
|
Hepatic failure, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Clinodactyly... |
ORPHA:108 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Broad nasal tip, Rectovaginal fistula, Anal stenosis, Narrow nose, Spina bifida occulta, Thin upp... |
OMIM:300707 |
Oculocutaneous Albinism Type 2 |
|
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... |
ORPHA:79432 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:64755 |
1Q41Q42 Microdeletion Syndrome |
|
Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, Depressed nasal bridge, ... |
ORPHA:250999 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Hydrocephalus, Cleft palate |
ORPHA:2736 |
Dyskeratosis Congenita |
|
Oral leukoplakia, Hypopigmented skin patches, Hypodontia, Carious teeth, Tracheoesophageal fistul... |
ORPHA:1775 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... |
ORPHA:882 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels |
OMIM:204000 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Hepatic failure, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphad... |
OMIM:308240 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... |
OMIM:603909 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Bifid uvula, Delayed eruption of teeth, Hypodontia, Cigarette-paper scars, Platyspon... |
OMIM:612350 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia, Erlenmeyer flask deformity o... |
OMIM:610539 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:615631 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios, Cleft palate, Choanal atresia |
ORPHA:1226 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... |
ORPHA:75564 |
Microvillus Inclusion Disease |
|
Abnormality of small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis, H... |
OMIM:613313 |
Spinocerebellar Ataxia 7 |
|
Pigmentary retinopathy, Macular degeneration, Optic atrophy |
OMIM:164500 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Narrow mouth, High palate, Short philtrum, Bifid uvula, Scoliosis, Depressed nasal bridge, Pylori... |
ORPHA:96184 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Lumbar hyperlordosis, Back pain |
OMIM:169550 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Hypodontia, High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, ... |
ORPHA:3201 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Spina bifida occulta, Fibrous syngnathia, Cleft palate |
OMIM:119500 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Oculofaciocardiodental Syndrome |
|
Solitary median maxillary central incisor, Abnormal palate morphology, Long philtrum, Fused teeth... |
ORPHA:2712 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Hypoplasia of the femoral head, Thrombocytosis, ... |
OMIM:209950 |
Diverticulosis, Small-Intestinal |
|
Ulcerative colitis, Jejunoileal diverticula, Duodenal diverticula, Jejunal diverticula |
OMIM:223320 |
Larsen Syndrome |
|
Cervical kyphosis, Cleft upper lip, Spondylolysis, Hypodontia, Spinal cord compression, Beaking o... |
OMIM:150250 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, Celiac disease, ... |
ORPHA:576283 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly,... |
OMIM:269920 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy |
OMIM:264470 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Dubowitz Syndrome |
|
High palate, Sacral dimple, Delayed eruption of teeth, Anal stenosis, Rectal prolapse, Submucous ... |
ORPHA:235 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Narrow mouth, High palate, Bifid uvula, Sacral dimple, Abnormality of dental eruption, Horizontal... |
OMIM:211910 |
Schilbach-Rott Syndrome |
|
Narrow mouth, Long nose, Bifid uvula, Submucous cleft hard palate, Prominent nose |
OMIM:164220 |
Duane Retraction Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Hypopigmented skin patches, Everted lower lip ... |
ORPHA:233 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Depressed nasal ridge, Non-midline cleft lip, Bilateral cleft lip and palate, Tooth agenesis, Men... |
ORPHA:2003 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... |
ORPHA:816 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... |
ORPHA:79434 |
Immunodeficiency 81 |
|
Impaired neutrophil chemotaxis, Autoimmune hemolytic anemia, Abnormally low T cell receptor excis... |
OMIM:619374 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Congenital Tufting Enteropathy |
|
Abnormal small intestinal mucosa morphology, Anal atresia, Malabsorption, Villous atrophy, Elevat... |
ORPHA:92050 |
Spondylometaphyseal Dysplasia, Axial |
|
Short femoral neck, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Narrow g... |
OMIM:602271 |
Rapp-Hodgkin Syndrome |
|
Narrow mouth, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Velopharyngeal insufficien... |
OMIM:129400 |
Orofaciodigital Syndrome Iii |
|
Tongue nodules, Bifid uvula, Kyphosis, Bulbous nose, Microdontia, Supernumerary tooth, Bifid tongue |
OMIM:258850 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate, Anteverted nares, Six... |
OMIM:619122 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... |
ORPHA:2585 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Chikungunya |
|
Epistaxis, Petechiae, Gingival bleeding, Erythema, Macule, Pedal edema, Joint swelling, Skin vesi... |
ORPHA:324625 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Visceral Myopathy 2 |
|
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... |
OMIM:619350 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
Leber Congenital Amaurosis 15 |
|
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor |
OMIM:613843 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Vitreoretinopathy, Macular edema, Retinoschisis |
OMIM:268100 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia, Cleft palate, Cleft lip |
OMIM:612370 |
Retinitis Pigmentosa 14 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriola... |
OMIM:600132 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
Sweet Syndrome |
|
Erythematous plaque, Inflammation of the large intestine, Pyoderma gangrenosum, Skin nodule, Eryt... |
ORPHA:3243 |
Alagille Syndrome |
|
Short philtrum, Long nose, Abnormal form of the vertebral bodies, Spina bifida occulta, Vertebral... |
ORPHA:52 |
Birk-Barel Syndrome |
|
Submucous cleft soft palate, High palate, Short philtrum, Bifid uvula, Sacral dimple, Tented uppe... |
OMIM:612292 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia |
OMIM:613101 |
Zimmermann-Laband Syndrome 1 |
|
High palate, Delayed eruption of teeth, Gingival fibromatosis, Thick lower lip vermilion, Wide na... |
OMIM:135500 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy |
OMIM:618852 |
3Mc Syndrome 1 |
|
Cleft upper lip, Sacral dimple, Caudal appendage, Dental crowding, Spina bifida occulta, Wide ant... |
OMIM:257920 |
Achondrogenesis, Type Ii |
|
Hydrops fetalis, Polyhydramnios, Cleft palate, Edema, Absent vertebral body mineralization, Still... |
OMIM:200610 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta |
OMIM:618060 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, Anteverted nares, Long philtrum, Velopharyngeal insufficiency, Intestinal mal... |
OMIM:614701 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Urin... |
ORPHA:79124 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Sandal gap, Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hyposp... |
ORPHA:1046 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency |
ORPHA:100025 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Retinal atrophy, Pigmentary retinopathy, Retinal pig... |
ORPHA:52427 |
W Syndrome |
|
Broad nasal tip, Broad uvula, Upper lip pit, Submucous cleft hard palate, Depressed nasal bridge,... |
ORPHA:2804 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Cleft palate, Non-midline cleft lip |
ORPHA:1072 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Immunodeficiency 21 |
|
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... |
OMIM:614172 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Broad columella, Bulbous nose, Cleft soft palate, Thick nasal alae, Smooth philtr... |
ORPHA:293725 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Duodenitis, Villous atrophy |
OMIM:614328 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:2584 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly |
OMIM:618541 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... |
ORPHA:158061 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Death in infancy, Spina bifida |
ORPHA:99742 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia |
OMIM:616005 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... |
OMIM:224120 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:66661 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling |
OMIM:219900 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Clinodactyly, Leukopenia, Monocytosis, Cryptorchidism, Hydronephrosis, Splenomegaly, Thrombocytop... |
OMIM:612541 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of ... |
ORPHA:1135 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormality of the optic disc |
ORPHA:65 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1466 |
Leukocyte Adhesion Deficiency, Type Iii |
|