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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
abnormal kidney morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
enlarged spleen Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
increased granulocyte number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 4.96×10-05
increased red blood cell distribution width Pdgfctm1b(EUCOMM)Hmgu HET Late adult 4.74×10-06
increased monocyte cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 6.71×10-05
abnormal seminal vesicle morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
decreased erythrocyte cell number Pdgfctm1b(EUCOMM)Hmgu HET   Late adult 2.15×10-05
long tibia Pdgfctm1b(EUCOMM)Hmgu HET Late adult 9.73×10-07
abnormal liver morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
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
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis OMIM:184300
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Choroideremia
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... OMIM:303100
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... OMIM:618697
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl... OMIM:615631
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Syngnathia
Cleft palate OMIM:119550
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Neural Tube Defects, Susceptibility To
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... OMIM:182940
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Diarrhea 9
Villous atrophy OMIM:618168
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Isotretinoin Syndrome
Sacral dimple, Cleft palate, Depressed nasal bridge, Spina bifida occulta ORPHA:2305
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... ORPHA:67044
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... OMIM:620102
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Darier Disease
Skin vesicle, Plantar pits, Anal mucosal leukoplakia, Acrokeratosis, Macule, Hypermelanotic macule ORPHA:218
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Retinitis Pigmentosa 54
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:613428
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:614180
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Sprengel Deformity
Spina bifida occulta, Hemivertebrae, Cervical segmentation defect, Scoliosis OMIM:184400
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
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Wide nasal bridge, Vertebral segmentation defect, Abnormal sacrum morphology, Spin... ORPHA:1797
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 17
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:600852
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Dowling-Degos Disease
Palmar pits, Skin vesicle, Hyperpigmented papule, Hyperkeratotic papule, Digital pitting scar, Ep... ORPHA:79145
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Localized skin lesion, Hyperkeratotic papule, Skin vesicle, Enamel hypoplasia, Keloids, At... ORPHA:79410
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of f... ORPHA:1802
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Acrofacial Dysostosis, Palagonia Type
Dermal atrophy, Oligodontia, Supernumerary tooth, Spina bifida occulta, Short neck, Aplasia/Hypop... ORPHA:1787
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticarial plaque, Erythe... ORPHA:64745
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Dermatitis Herpetiformis
Skin vesicle, Malabsorption, Edema, Macule, Erythema ORPHA:1656
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:619007
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... OMIM:300908
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Spina bifida occulta at S1, Abnormal vertebral morphology OMIM:102510
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pemphigus Foliaceus
Skin vesicle, Oral ulcer, Annular cutaneous lesion, Scaling skin, Abnormal oral mucosa morphology... ORPHA:79481
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Microvillar PAS-positive secretory granules, Villous atrophy OMIM:619445
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Elevated hepati... OMIM:619644
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Autosomal Dominant Hyper-Ige Syndrome
Gingivitis, Skin vesicle, Wide nasal bridge, Delayed eruption of teeth, Skin ulcer, Papule, Scoli... ORPHA:2314
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Cafe-au-lait spot, Esophageal atresia, Preauricular pit, Fused cervical vertebrae, Sub... OMIM:619227
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... ORPHA:103907
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Skin ulcer, Papule, Inflammation of the large intestine ORPHA:48104
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... OMIM:300835
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Uvula, Bifid
Bifid uvula OMIM:192100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Skin vesicle, Papule, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morp... ORPHA:257
Nevus Comedonicus Syndrome
Comedo, Spina bifida, Abnormal vertebral morphology, Nevus flammeus, Spina bifida occulta, Scoliosis ORPHA:64754
Fountain Syndrome
Wide mouth, Kyphosis, Thick lower lip vermilion, Spina bifida, Papule, Everted lower lip vermilio... ORPHA:3219
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria OMIM:602079
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, Short neck, Anteverted nares... ORPHA:2015
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pierre-Robin sequence, Long philtrum, Short nose, Everted lower lip vermilion, Thin ... OMIM:617877
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Long philtrum, Kyphosis, Vertebral segmentation defect, Spina bifida occulta, Depres... ORPHA:2311
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Acrofacial Dysostosis, Catania Type
Carious teeth, Spina bifida occulta, Preauricular pit OMIM:101805
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Hennekam-Beemer Syndrome
Wide nose, Skin vesicle, High palate, Wide nasal bridge, Thick lower lip vermilion, Papule, Macul... ORPHA:2135
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Camptodactyly, Lacticaciduria, Anisocytosis, Hepatome... OMIM:604273
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Underdeveloped nasal alae, Congenital pyloric atresia, Polyhydramnios, Aplasia cutis congenita, A... OMIM:612138
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... OMIM:251270
Iga Pemphigus
Skin vesicle, Annular cutaneous lesion, Ulcerative colitis, Skin plaque, Oral mucosal blisters, S... ORPHA:555905
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Wells Syndrome
Edema, Skin vesicle ORPHA:901
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Oral mucosal blisters ORPHA:158681
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... OMIM:304020
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Achromatopsia
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... ORPHA:49382
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Cleft palate, Cleft upper lip, Palmoplantar cutis laxa OMIM:268850
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Acrocraniofacial Dysostosis
Preauricular pit, Advanced eruption of teeth, Short philtrum, Spina bifida occulta, Anteverted na... ORPHA:949
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Polyhydramnios, Wide nasal bridge, Short lingual frenulum, Microdontia... OMIM:617360
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Genu valgum, Hypersplenism, Reduced hemoglobin A, Jaundice, Decrease... ORPHA:231226
Arthrogryposis, Distal, Type 2A
Underdeveloped nasal alae, Polyhydramnios, High palate, Long philtrum, Wide nasal bridge, Short n... OMIM:193700
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Skin tags, High palate, Bifid uvula, Nasal polyposis, Median cleft lip OMIM:155145
Intellectual Developmental Disorder, Autosomal Recessive 44
Long philtrum, Bifid uvula, Depressed nasal bridge, Anteverted nares, Thin vermilion border OMIM:615942
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Osteopathia Striata-Cranial Sclerosis Syndrome
Hyperlordosis, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Submucous cleft hard pa... ORPHA:2780
Cleft Soft Palate
Cleft soft palate OMIM:119570
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Chorioretinal atrophy, Macular coloboma, Pigmentary retinopathy, Nummul... OMIM:613835
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Dry skin, Scoliosis, Abnormality of the dentition ORPHA:177
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short philtrum, Short nose, Spina bifida occulta, Downturned corners of mouth, Short ne... ORPHA:2983
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula, Hydrocephalus, Death in infancy OMIM:258320
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Fetal Akinesia Deformation Sequence 4
Polyhydramnios, Prenatal death, High palate, Kyphosis, Wide nasal bridge, Short neck, Neonatal death OMIM:618393
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor OMIM:612572
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ce... OMIM:614172
Retinitis Pigmentosa 1
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180100
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Myelomeningocele, Ectopic anus, Block vertebrae, Vertebral segmentation defect,... OMIM:613686
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613756
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Clinodactyly, Erythroid hypoplasi... OMIM:612541
Retinitis Pigmentosa 45
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:613767
Pai Syndrome
Skin tags, Encephalocele, Bifid uvula, Nasal polyposis, Abnormal oral frenulum morphology, Midlin... ORPHA:1993
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Narrow nasal bridge, Short nose ORPHA:1514
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Rectal prolapse, Narrow palate, Wide nasal bridge, Delayed eruption of teeth, P... OMIM:235510
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Retinitis Pigmentosa 83
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... OMIM:618173
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... ORPHA:71275
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Tethered cord OMIM:615281
Leber Congenital Amaurosis 2
Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ... OMIM:204100
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Lowry-Maclean Syndrome
Preauricular pit, Cleft palate, Convex nasal ridge, Delayed eruption of teeth OMIM:600252
Maxillonasal Dysplasia
Vertebral clefting, Abnormal nostril morphology, Striae distensae, Patchy distortion of vertebrae... ORPHA:1248
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Hypotrichosis And Recurrent Skin Vesicles
Angular cheilitis, Skin vesicle OMIM:613102
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morphology, Anisocyto... ORPHA:98870
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Carey-Fineman-Ziter Syndrome 2
Underdeveloped nasal alae, Abnormal nasal septum morphology, Long philtrum, Velopharyngeal insuff... OMIM:619941
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal metaphysis morphology, Splenomegaly, Hepatomegaly ORPHA:417
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Retinitis Pigmentosa 12
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:600105
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle, Narrow palate, Depressed nasal ridge, Wide nasal bridge, Deep philtrum, Severe peri... ORPHA:99843
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Elevated hepatic transaminase, Hepatomegaly, S... OMIM:613313
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Three M Syndrome 1
Hyperlordosis, Increased vertebral height, Long philtrum, Thick lower lip vermilion, Spina bifida... OMIM:273750
White Forelock With Malformations
Spina bifida occulta, Abnormal palate morphology, Deep philtrum ORPHA:2475
Tyrosinemia Type 1
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... ORPHA:882
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Hematuria, Poikilocytosis, Oroticaciduria, Anisocytos... OMIM:258900
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Nephropathy, Lymphadenopathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Holoprosencephaly 4
Absent nasal septal cartilage, Median cleft lip and palate, Median cleft lip, Depressed nasal bri... OMIM:142946
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Spina bifida occulta, Downturned corners of mouth, Anteverted nares, Thick vermilion ... ORPHA:1185
Retinitis Pigmentosa 2
Rod-cone dystrophy, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Pigmentar... OMIM:312600
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Acrofacial Dysostosis, Catania Type
Preauricular pit, Short nose, Spina bifida occulta, Abnormal palate morphology, Tooth agenesis, S... ORPHA:1786
Anencephaly 2
Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Median cleft lip OMIM:619452
Cleidocranial Dysplasia
Delayed eruption of teeth, Supernumerary tooth, Abnormal sacrum morphology, Spina bifida occulta,... ORPHA:1452
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, High palate, Myelomeningocele, Spina bifida, Hydrocephalus, Tracheoesoph... ORPHA:2437
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy, Central heterochromia OMIM:275400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Hepatomegaly, Thrombocytopenia, ... OMIM:610539
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... OMIM:145350
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Gastrointestinal hemorrhage ORPHA:230839
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... OMIM:615234
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Carpenter Syndrome 1
Sacral dimple, High palate, Preauricular pit, Agenesis of permanent teeth, Spina bifida occulta, ... OMIM:201000
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation ORPHA:2196
Orofaciodigital Syndrome Xix
Underdeveloped nasal alae, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongu... OMIM:620107
Porphyria Variegata
Milia, Back pain, Localized skin lesion, Skin vesicle, Skin erosion, Ileus ORPHA:79473
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... OMIM:605549
Nephronophthisis 19
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... OMIM:616217
Townes-Brocks Syndrome 2
Spina bifida occulta, Rectovaginal fistula, Scoliosis, Anal atresia OMIM:617466
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Proprotein Convertase 1/3 Deficiency
Malabsorption, Villous atrophy OMIM:600955
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema, High palate, Choanal atresia OMIM:613611
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Microcephaly 30, Primary, Autosomal Recessive
Choanal stenosis, Pierre-Robin sequence, Cleft soft palate, Cafe-au-lait spot, Thin upper lip ver... OMIM:620183
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Scoliosis OMIM:618736
Bamforth-Lazarus Syndrome
Cleft palate, Polyhydramnios, Choanal atresia OMIM:241850
Mucopolysaccharidosis, Type Ix
Depressed nasal bridge, Bifid uvula, Submucous cleft hard palate, Lumbar scoliosis OMIM:601492
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Distal Monosomy 10Q
Prominent nose, High palate, Wide nasal bridge, Anal atresia, Short nose, Spina bifida occulta, T... ORPHA:96148
Secondary Short Bowel Syndrome
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... ORPHA:95427
Dyskeratosis Congenita
Skin vesicle, Periodontitis, Malabsorption, Hypodontia, Taurodontia, Esophageal stenosis, Skin ul... ORPHA:1775
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Osteopathia Striata With Cranial Sclerosis
Dental malocclusion, Cleft upper lip, Polyhydramnios, Pierre-Robin sequence, High palate, Wide na... OMIM:300373
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Sandal gap, Ascites, Splenom... ORPHA:1046
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... OMIM:620010
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autosomal Recessive Multiple Pterygium Syndrome
Nevus, High palate, Long philtrum, Vertebral segmentation defect, Spina bifida occulta, Aplasia/H... ORPHA:2990
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Limb Body Wall Complex
Encephalocele, Myelomeningocele, Wide nasal bridge, Spina bifida, Short umbilical cord, Progressi... ORPHA:2369
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Polyhydramnios, Kyphosis, Spina bifida occulta, Scoliosis OMIM:618291
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Popliteal Pterygium Syndrome
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Bifid uvula, Spina bifida occulta, Cleft palate OMIM:119500
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Parietal Foramina 1
Aplasia cutis congenita of scalp, Cleft palate, Cleft upper lip, Encephalocele OMIM:168500
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, Perianal abscess OMIM:619437
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Back pain, Lumbar hyperlordosis OMIM:169550
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... OMIM:266200
Van Esch-O'Driscoll Syndrome
Sacral dimple, Wide mouth, Esophageal atresia, Bifid uvula, Short nose, Tracheoesophageal fistula... OMIM:301030
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti... OMIM:618278
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, De... OMIM:616331
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Hypoplasia of the femoral head, Lymphadenopathy, Thrombocytosis, Leuk... OMIM:209950
Craniosynostosis 6
Spina bifida occulta, Scoliosis OMIM:616602
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Inflammatory Bowel Disease (Crohn Disease) 30
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... OMIM:619079
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent nose, Cleft soft palate, Prominent nasal tip, Short philtrum, Oligohydramnios, Broad co... ORPHA:293725
Cone-Rod Dystrophy 10
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Congenital Tufting Enteropathy
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... ORPHA:92050
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
Leber Congenital Amaurosis 1
Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:204000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... OMIM:194380
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Bifid uvula, Cleft palate, Unilateral cleft lip ORPHA:2736
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Dubowitz Syndrome
Sacral dimple, High palate, Wide anterior fontanel, Wide mouth, Delayed eruption of teeth, Malabs... ORPHA:235
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:300029
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Harderoporphyria
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... OMIM:618892
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... ORPHA:158057
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Birk-Barel Syndrome
Sacral dimple, High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented uppe... OMIM:612292
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum, Skin nodule, Inflammation of the large intestine, Erythematou... ORPHA:3243
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Duane Retraction Syndrome
Wide nasal bridge, Hypopigmented skin patches, Everted lower lip vermilion, Spina bifida occulta,... ORPHA:233
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615010
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
3Mc Syndrome
Hyperlordosis, Abnormal nasal morphology, Caudal appendage, Spina bifida occulta, Downturned corn... ORPHA:293843
Adducted Thumbs Syndrome
Cleft palate, Velopharyngeal insufficiency, High palate, High, narrow palate OMIM:201550
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,... ORPHA:848
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Splenomegaly, Spherocytosis ORPHA:66518
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... ORPHA:2502
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Bamforth-Lazarus Syndrome
Cleft palate, Polyhydramnios, Choanal atresia ORPHA:1226
Babesiosis
Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Jaundice, Clinodactyly of the... ORPHA:108
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of the liver, Decreased liver functi... ORPHA:231222
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Nephrotic sy... OMIM:615559
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opt... OMIM:600132
Larsen Syndrome
Cleft upper lip, Vertebral fusion, Spondylolysis, Hypodontia, Cervical kyphosis, Spina bifida occ... OMIM:150250
Zimmermann-Laband Syndrome 1
High palate, Long philtrum, Wide nasal bridge, Delayed eruption of teeth, Wide mouth, Gingival fi... OMIM:135500
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Broad nasal tip, Scoliosis ORPHA:166016
Immunodeficiency 64 With Lymphoproliferation
Clubbing of fingers, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, H... OMIM:618534
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Sjögren-Larsson Syndrome
Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Lenz-Majewski Hyperostotic Dwarfism
Enamel hypoplasia, Choanal stenosis, Thin skin, Cutis laxa, Spina bifida occulta, Anteriorly plac... OMIM:151050
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Peroxisomal Acyl-Coa Oxidase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy OMIM:264470
Hydrolethalus
Polyhydramnios, Gingival cleft, Arrhinencephaly, Bifid uvula, Submucous cleft hard palate, Hydroc... ORPHA:2189
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Abnormality of the pancreas, Lymphopenia, Long fibula, Abnormal metaphysis morphology ORPHA:935
3Mc Syndrome 1
Sacral dimple, Cleft upper lip, Wide anterior fontanel, Caudal appendage, Dental crowding, Spina ... OMIM:257920
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity, Abnormal nostril morphology, Long philtrum, Depressed nasal ridge, Wide ... ORPHA:178303
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Retinitis Pigmentosa 51
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Retinitis Punctata Albescens
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... ORPHA:52427
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Macular edema, Vitreoretinopathy OMIM:268100
X-Linked Sideroblastic Anemia
Anemia, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... OMIM:617394
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, High palate, Tooth agenesis, Cleft palate, Abnormality of ... ORPHA:1135
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Wide nasal bridge, Long philtrum, Short nose, Broad nasal tip, Absent uvula, A... OMIM:618529
Doors Syndrome
Polyhydramnios, Wide nasal bridge, Short lingual frenulum, Spina bifida occulta, Sirenomelia, Cle... ORPHA:79500
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Anosmia, Cleft lip OMIM:612370
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Lip pit, Cleft palate ORPHA:1072
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Tooth a... ORPHA:2003
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1390
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... ORPHA:64743
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Retinitis Pigmentosa 75
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617023
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Alagille Syndrome
Butterfly vertebral arch, Vertebral segmentation defect, Short philtrum, Spina bifida occulta, Lo... ORPHA:52
Chikungunya
Pedal edema, Skin vesicle, Petechiae, Epistaxis, Macule, Joint swelling, Gingival bleeding, Eryth... ORPHA:324625
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... OMIM:619868
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hemat... OMIM:603903
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... OMIM:619463
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Branchiogenic-Deafness Syndrome
Preauricular pit, Submucous cleft hard palate, Preauricular skin tag, Branchial cyst, Branchial f... OMIM:609166
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... ORPHA:507
Incontinentia Pigmenti
Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Skin ulcer, Hypopigmente... ORPHA:464
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Short nose, Ev... ORPHA:884
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Fetal Gaucher Disease
Hydrops fetalis, High palate, Death in infancy, Depressed nasal bridge, Anteverted nares, Stillbi... ORPHA:85212
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transamina