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Gene: Pdgfc MGI:1859631

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Gene Summary

Name:
platelet-derived growth factor, C polypeptide
Synonyms:
PDGF-C,  1110064L01Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased B-2 B cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 2.13×10-08
decreased CD8-positive, naive alpha-beta T cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 2.08×10-06
increased effector memory T-helper cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 3.34×10-08
decreased follicular B cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 1.88×10-08
decreased CD8-positive, alpha-beta T cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 1.47×10-06
increased effector memory CD8-positive, alpha-beta T cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 1.26×10-05
decreased Ly6C-positive NK T cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 1.45×10-05
abnormal kidney morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
enlarged spleen Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
increased Ly6C-positive mature NK cell number Pdgfctm1b(EUCOMM)Hmgu HET   Late adult 4.59×10-05
long tibia Pdgfctm1b(EUCOMM)Hmgu HET Late adult 3.85×10-07
decreased CD5-positive Ly6C-positive T cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 4.65×10-05
immune system phenotype Pdgfctm1b(EUCOMM)Hmgu HET Late adult 7.05×10-07
decreased B-1a cell number Pdgfctm1b(EUCOMM)Hmgu HET   Late adult 2.55×10-05
abnormal liver morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
abnormal seminal vesicle morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
decreased B cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 2.19×10-08
preweaning lethality, incomplete penetrance Pdgfctm1b(EUCOMM)Hmgu HOM   Early adult 0.00254

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Human diseases caused by Pdgfc mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pdgfc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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