Gene Summary

secreted frizzled-related protein 1
sFRP-1,  2210415K03Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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
increased bone mineral content Sfrp1tm1Aksh HOM Early adult 6.00×10-06
increased total body fat amount Sfrp1tm1Aksh HOM Early adult 1.45×10-05
decreased bone mineral density Sfrp1tm1Aksh HOM Early adult 3.75×10-06
abnormal pupil morphology Sfrp1tm1Aksh HOM   Early adult 1.45×10-05
abnormal iris morphology Sfrp1tm1Aksh HOM Early adult 4.01×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Sfrp1 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 Sfrp1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Immunodeficiency 110 With Lymphoproliferation
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Iris coloboma, Microcoria OMIM:616428
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Inguinal hernia, Corneal guttata, Corneal dystrophy, Keratoconus OMIM:609141
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Thrombocytopenia... OMIM:615285
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Neutropenia, Splenomegaly, Anemia OMIM:602079
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Hemochromatosis, Type 3
Elevated transferrin saturation, Anemia, Cardiomyopathy, Lymphopenia, Increased serum iron, Incre... OMIM:604250
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Increased circula... OMIM:603552
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Pancytopenia, Lymphocytosi... OMIM:614470
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Immunodeficiency 24
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Ectopic ossification, Hyperphosphatemia, Cellulitis ORPHA:280062
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154275
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Osteopenia, Hyperc... OMIM:617994
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Joint stiffness, Ectopia lentis ORPHA:1885
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154276
Facial Spasm
Anisocoria OMIM:134300
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalce... ORPHA:36913
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increased mean corpuscular volume, ... OMIM:618849
Short Syndrome
Lipodystrophy, Inguinal hernia, Megalocornea, Abnormal pupil morphology, Abnormal anterior chambe... ORPHA:3163
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... OMIM:150550
Diamond-Blackfan Anemia 4
Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia OMIM:612527
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hyperphosphatemia, Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Enamel hypoplasia, Hyperostosis, Subperiosteal bone formation, Calcinosis OMIM:211900
X-Linked Recessive Ocular Albinism
Astigmatism, Abnormal pupil morphology, Iris hypopigmentation, Ocular albinism ORPHA:54
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hyperphosphatemia, Enamel hypoplasia, Subcutaneous ossification, Hypocalcemic tetany OMIM:103580
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Chorioretinal coloboma, Iris co... OMIM:613702
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Pancytopenia,... OMIM:308240
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Anemia, Transient hypophosphatemia, Hyperphosphatemia, Thickened ... OMIM:127000
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Osteopenia, Eo... ORPHA:486
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Proteus-Like Syndrome
Cataract, Shagreen patch, Abnormal pupil morphology, Hyperostosis, Subcutaneous lipoma, Limbal de... ORPHA:2969
Immunodeficiency 46
Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Cardiomyopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Paget Disease Of Bone 5, Juvenile-Onset
Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, Osteoporosis, Hyperphosphatemia... OMIM:239000
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Thrombocytopenia, B lymphocytopenia,... OMIM:301078
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic seizures, Hyperphosphatemia, E... ORPHA:94089
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Os... ORPHA:398063
Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis, Neutropenia ORPHA:238459
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Anemia, Hepatomegaly, Thrombocytopenia, Neutropenia ORPHA:289916
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Specific Granule Deficiency 2
Absent neutrophil specific granules, Anemia, Amelogenesis imperfecta, Osteopenia, Thrombocytopeni... OMIM:617475
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... OMIM:221900
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypophosphatemia, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency anemia ORPHA:89937
Griscelli Syndrome Type 2
Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Coats Disease
Leukocoria OMIM:300216
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Osteolysis, Leukocytosis, Anemia, Leukemia, Osteoporosis, Abnormal mast cell ... ORPHA:98850
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Alexander Disease
Microcoria OMIM:203450
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia, Anemia OMIM:617056
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Whim Syndrome 1
Neutropenia OMIM:193670
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Abnormality iris morphology ORPHA:1617
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Hypophosphatemic Bone Disease
Rickets, Hypophosphatemia, Osteomalacia OMIM:146350
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutrophils, Umb... OMIM:169400
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Hypophosphatemia, Abnormal adipose tissue morphology, Osteomalacia, Coarse metaphysea... ORPHA:93160
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Abnormal natural killer cell count,... ORPHA:158061
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia ORPHA:2643
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Abnormal dental enamel morphology ORPHA:2323
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Methylmalonic acidemia, Atrial septal defect, Thrombocytopenia, Normochromic ane... OMIM:614857
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Cardiomyopathy, Hepatomegaly, Thrombocytopeni... OMIM:251000
Propionic Acidemia
Hyperammonemia, Anemia, Osteoporosis, Cardiomyopathy, Hepatomegaly, Thrombocytopenia, Pancytopeni... OMIM:606054
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia OMIM:615387
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... OMIM:617514
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Fluctuating sp... OMIM:619220
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... OMIM:610202
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Norrie Disease
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... OMIM:310600
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Cortical thickening of long bone diaphyses, Hypocalcemic seizures, Calvarial osteoscleros... ORPHA:93325
Congenital Enterovirus Infection
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hyperammonemia, Anemia, Ca... ORPHA:292
Uveal Melanoma
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Inferior lens subluxation ORPHA:39044
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Joint stiffness, Iridodonesis, Shallow anterior chamber, Posterior ... OMIM:613195
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Felty Syndrome
Osteolysis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Thrombocytopenia, Cellulitis, P... ORPHA:47612
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Chondrocalcinosis, Hypophosphatemia, Osteopenia, Hypercalcemia ORPHA:99879
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Ventricular septal defect, Atrial septal defect, Anemia, Neutropenia OMIM:618067
Phacoanaphylactic Uveitis
Panuveitis, Anterior chamber flare grade 1+, Abnormal pupil morphology, Posterior uveitis, Abnorm... ORPHA:209959
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification, Hypocalcemic seizures, Hyperphosphatemia, E... ORPHA:79444
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Chorioretinal hypopigmentation, Corneal erosion, Ante... OMIM:106210
Familial Dysautonomia
Osteolysis, Corneal erosion, Abnormal pupil morphology, Corneal opacity, Recurrent fractures, Het... ORPHA:1764
Neonatal Lupus Erythematosus
Aplastic anemia, Hemolytic anemia, Anemia, Hepatomegaly, Abnormal heart morphology, Thrombocytope... ORPHA:398124
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... OMIM:602482
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Ect... ORPHA:79443
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Hypophosphatemia, Osteopenia OMIM:612287
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypocalcemia,... OMIM:600081
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hyperproteinemia, Hepatomegaly, Hypertriglyceridemia, Abnormal natural ... ORPHA:158048
Immunodeficiency 95
Lymphopenia OMIM:619773
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Osteoporosis, Thrombocytopenia, Pancytopenia, Dilated cardiomyopathy... OMIM:613989
Wolcott-Rallison Syndrome
Hyperammonemia, Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Double outlet right ventr... ORPHA:1667
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Neonatal epiphyseal stippling, Hyperphosphatemia, Epiphyseal stippling OMIM:101800
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Anemia, Thrombocytopenia, Cellulitis, Hypocalcemia, Neutro... ORPHA:47
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Methylmalonic acidemia, Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Hyp... OMIM:251110
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Leukopenia, Ventricular septal defect, Hepatomegaly, Lymphopenia, S... OMIM:620210
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia OMIM:301081
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count OMIM:619752
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Methylcobalamin Deficiency Type Cble
Osteoporosis, Macrocytic anemia, Increased mean corpuscular volume, Hyperhomocystinemia, Pancytop... ORPHA:2169
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Hypophosphatemia, Osteopenia OMIM:612286
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Hypophosphatemic rickets, ... OMIM:241530
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Osteoporosis, Oste... OMIM:612562
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Elevated creatine kinase after exer... ORPHA:423
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cellulitis, Cyclic n... ORPHA:2686
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Delayed epiphyseal ossificat... OMIM:264700
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... OMIM:231095
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:88
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Barth Syndrome
Cyclic neutropenia, Hypertrophic cardiomyopathy, Hypochromic microcytic anemia, Dilated cardiomyo... OMIM:302060
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Dextrocardia, Megaloblastic anemia, Anemia, Atrial septal defect, Methylmalonic acidemia, Hepatom... OMIM:277380
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemia, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificatio... OMIM:300554
Axenfeld-Rieger Syndrome, Type 1
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... OMIM:180500
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Necrotizing Enterocolitis
Leukocytosis, Abnormal heart morphology, Thrombocytopenia, Hyponatremia, Neutropenia ORPHA:391673
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... ORPHA:101096
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Secundum atrial septal defect, Inguinal hernia, Int... OMIM:612541
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Panniculitis, T... ORPHA:508542
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Duane Retraction Syndrome
Camptodactyly, Central heterochromia, Iris coloboma, Hypoplastic iris stroma, Abnormal pupil morp... ORPHA:233
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Hypokalemia, Hypoc... ORPHA:31824
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Persistent Hyperplastic Primary Vitreous
Cataract, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Corneal opacity, ... ORPHA:91495
Dent Disease 2
Umbilical hernia, Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... ORPHA:443811
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... ORPHA:811
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Osteomalacia, Delayed epiphy... ORPHA:289157
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Enlarged kidney, Anemia, Atrial septal defect, Hypoalbuminemia, Hepatomegaly, Thrombo... OMIM:617303
Vitamin D-Dependent Rickets, Type 2A
Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Delayed epiphyseal ossificat... OMIM:277440
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Hypoalbuminemia ORPHA:88643
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Abnormal cementum morphology, Multiple bony cystic lesions, Abnormal tra... ORPHA:83451
Letterer-Siwe Disease
Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:246400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Hypoalbuminemia, ... ORPHA:540
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide... ORPHA:157215
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thi... OMIM:600785
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Anemia, Hyperphosphatemia, Hyperkalemia, Thrombocytopenia, Elevated circulating cre... ORPHA:340
Chediak-Higashi Syndrome
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Impaired neutrophi... OMIM:214500
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Hypophosphatemia ORPHA:2611
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Eiken Syndrome
Thin bony cortex, Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecula... ORPHA:79106
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Methylmalonic acidemia, Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Hyp... OMIM:251100
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Neutropenia OMIM:618253
Cohen Syndrome
Mitral valve prolapse, Leukopenia, Neutropenia OMIM:216550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Thrombocytopenia, Coombs-positive... OMIM:304790
Transcobalamin Ii Deficiency
Hepatomegaly, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Pancytopenia, Neutropenia OMIM:275350
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Anemia of inadequate production, Neutropenia OMIM:614900
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Distal Deletion 6P
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... ORPHA:96125
Hypocalciuric Hypercalcemia, Familial, Type Iii
Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Osteomalacia, Multiple lipomas, Hypercalcemia OMIM:600740
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Neutropenia, Anemia OMIM:619835
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:520
Shwachman-Diamond Syndrome 1
Anemia, Persistence of hemoglobin F, Neutropenia, Hepatomegaly, Thrombocytopenia, Irregular ossif... OMIM:260400
Autosomal Agammaglobulinemia
Cellulitis, Neutropenia ORPHA:33110
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Abnormal heart mor... ORPHA:79284
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Enamel hypomineralization,... OMIM:307800
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Renal hypophosphate... ORPHA:289176
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Enamel hypoplasia, Scarring alopecia of scalp OMIM:618727
Schimke Immunoosseous Dysplasia
Anemia, Neutropenia, Lymphopenia, Osteopenia, Thrombocytopenia, Pancytopenia, Abnormal T cell mor... OMIM:242900
Alagille Syndrome
Abnormal pupil morphology, Keratoconus, Corneal dystrophy ORPHA:52
Fanconi Renotubular Syndrome 1
Rickets, Hypophosphatemia, Hypokalemia, Osteomalacia OMIM:134600
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Fanconi-Bickel Syndrome
Rickets, Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hepatomegaly, Hypokalemia, Osteomalac... OMIM:227810
Bone Marrow Failure Syndrome 3
Reduced bone mineral density, Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, ... OMIM:617052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Congenital contracture, Peters anomaly OMIM:613150
Fanconi Renotubular Syndrome 2
Rickets, Osteomalacia, Hypophosphatemia, Osteopenia OMIM:613388
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Anemia, Hepatomegaly, Splenomegaly, Hypercalcemia OMIM:239200
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Thrombocytop... ORPHA:466650
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Angioosteohypotrophic Syndrome
Thin bony cortex, Abnormal trabecular bone morphology ORPHA:75508
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... OMIM:251900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Joint contracture, Osteopenia, Neutropenia OMIM:618005
Noonan Syndrome 12
Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventricular septal defect OMIM:618624
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Hypoproteinemia, Hemophagocytosis, Anemia, Hyponatrem... ORPHA:167
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology, Joint contracture of the hand ORPHA:90658
Dent Disease 1
Rickets, Hypophosphatemia, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae,... OMIM:300009
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Lymphopenia, Hyperlipidemia, Thrombocytopenia,... ORPHA:1830
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Intestinal Botulism
Mydriasis ORPHA:178481
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Anemia, Elevated circulating creatine kinase concentration, Hypophosphatemic ri... OMIM:619743
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Poikiloderma With Neutropenia
Neutropenia, Leukopenia, Elevated circulating creatine kinase concentration, Splenomegaly OMIM:604173
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Neutropenia OMIM:609053
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Immunodeficiency 44
Lymphopenia OMIM:616636
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Cellulitis, Reduction of neutrophil motility OMIM:266265
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hepatomegaly, Reduced natural killer cell count, Thr... OMIM:608233
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Fanconi Anemia, Complementation Group E
Anemia, Leukemia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Pancytopenia, N... OMIM:600901
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Osteoporosis, Hepatomegaly, Hyperlipidemia, Splenomegaly, Neutrop... OMIM:232220
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C... OMIM:617099
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hepatomegaly, Hypouricemia, Hypophosphatemia OMIM:616026
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Infection associated neutropenia, Neutropenia ORPHA:445038
Lung abscess, Granuloma, Lymphopenia, Panniculitis, Cellulitis, Abnormality of the spleen, Fascii... ORPHA:228119
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Ectopia pupillae, Microcornea OMIM:615877
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... OMIM:613179
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Chronic neutropenia, Autoimmune thrombocyt... OMIM:614700
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Hepatomegaly, Thrombocytopenia, Acute leukemia, Abnorm... ORPHA:3226
Osteopetrosis, Autosomal Recessive 7
Anemia, Hypocalcemic seizures, Hepatomegaly, Abnormal trabecular bone morphology, Osteopetrosis, ... OMIM:612301
Fanconi Anemia, Complementation Group A
Anemia, Leukemia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Pancytopenia, N... OMIM:227650
Rothmund-Thomson Syndrome
Reduced bone mineral density, Aplastic anemia, Anemia, Leukemia, Osteopenia, Abnormal trabecular ... ORPHA:2909
Rickets, Hypophosphatemia, Hypokalemia ORPHA:213
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Abscess, Hepatomegaly, Osteopenia, Periostitis, Elevated circulating C-reactive prote... OMIM:612852
Vici Syndrome
Leukopenia, Atrial septal defect, Left ventricular hypertrophy, Cardiomyopathy, Lymphopenia, Elev... OMIM:242840
Immunodeficiency 23
Hemolytic anemia, Abscess, Lymphopenia, Eosinophilia, Neutropenia OMIM:615816
Oculo-Palato-Cerebral Syndrome
Cataract, Joint hypermobility, Leukocoria ORPHA:2714
Sepsis In Premature Infants
Leukocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Elevated circulating C-reactive protein con... ORPHA:90051
Sneddon Syndrome
Bicuspid aortic valve, Atrophic scars, Lymphopenia OMIM:182410
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Cataract, Microcornea OMIM:257850
Iatrogenic Botulism
Mydriasis ORPHA:254509
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:1959
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Knee flexion contracture, Osteopenia, Hip contracture, Hypercalcemia OMIM:156400
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Lymphopenia, Macrocytic anemi... OMIM:250250
Mccune-Albright Syndrome
Hypophosphatemia, Osteomalacia, Monostotic fibrous dysplasia, Polyostotic fibrous dysplasia, Panc... ORPHA:562
Wound Botulism
Mydriasis ORPHA:178475
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Hyperalaninemia, Hyperammonemia, Neutropenia OMIM:615471
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Umbilical hernia, Lymphopenia, Decrea... OMIM:617237
Fanconi Anemia, Complementation Group C
Anemia, Ventricular septal defect, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, F... OMIM:227645
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Fanconi-Bickel Syndrome
Rickets, Hypophosphatemia, Hepatomegaly, Osteopenia, Hypertriglyceridemia ORPHA:2088
Nephronophthisis 11
Anisocoria OMIM:613550
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Anemia, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia, Flexion... OMIM:617591
Fibrous Dysplasia Of Bone
Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Hy... ORPHA:249
Oculocerebrorenal Syndrome Of Lowe
Cataract, Chorioretinal dysplasia, Inguinal hernia, Joint stiffness, Lentiglobus, Umbilical herni... ORPHA:534
Hypophosphatemic Rickets
Rickets, Craniofacial osteosclerosis, Fibrous dysplasia of the bones, Hypophosphatemia, Enthesiti... ORPHA:437
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morphology, Osteopenia, Hypopl... ORPHA:2479
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... ORPHA:91547
Neutropenia, Eosinophilia ORPHA:1163
Inhalational Botulism
Mydriasis ORPHA:254504
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:308230
Craniosynostosis, Increased bone mineral density, Increased mean corpuscular hemoglobin concentra... ORPHA:33364
X-Linked Hypophosphatemia
Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Hypophosphat... ORPHA:89936
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Leukocytosis, Hepatomegaly, Elevated circu... ORPHA:829
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia, Sclerosis of skull base, Neutropenia OMIM:607944
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Lymphopenia, Reduced natural killer cell count, Decreased... OMIM:619510
Whim Syndrome
Tetralogy of Fallot, Lymphopenia, Abnormality of neutrophil morphology, Cellulitis, Neutropenia ORPHA:51636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Anemia, Leukemia, Osteopenia, Abnormal trabecular bone morphology, Abnormal dent... ORPHA:221008
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Hepatomegaly, Reticulocytopenia, Hypoplastic anemia, Hyp... OMIM:557000
Pearson Syndrome
Hypoplastic spleen, Reticulocytosis, Hypophosphatemia, Anemia, Cardiomyopathy, Hyperalaninemia, H... ORPHA:699
Cutis Marmorata Telangiectatica Congenita
Reduced bone mineral density, Leukocoria ORPHA:1556
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Fibrous dysplasia of the bones ORPHA:352540
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Ventricular septal defect, Atrial septal defect, Persistence o... ORPHA:124
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Hemolytic anemia, Anemia, Lymphopenia, Microcytic anemia, Hyperostosis,... ORPHA:906
Kasabach-Merritt Syndrome
Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Thrombocytopenia, Neutrop... ORPHA:2330
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Elevated circulating C-reac... OMIM:619644
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Megaloblastic anemia, Cystathioninemia, Thrombocytopenia, Hyperhomocystin... OMIM:277400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Lens subluxation, Corneal opacity ORPHA:85167
Pierson Syndrome
Cataract, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Posterior lenticonu... OMIM:609049
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... ORPHA:90362
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of... OMIM:242700
Mydriasis ORPHA:1267
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Anemia, Leukemia, Osteopenia, Abnormal trabecular bone morphology, Abnormal dent... ORPHA:221016
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Cartilage-Hair Hypoplasia
Anemia, Cardiomyopathy, Hepatomegaly, Hypocalcemia, Abnormally ossified vertebrae, Abnormal cardi... ORPHA:175
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Chondrocalcinosis, Hypocalcemic seizures, Hypermagnesemia, Osteomalacia, ... ORPHA:405
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Mydriasis, Osteopetrosis, Cranial hyperostosis, Decreased osteocl... OMIM:259720
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Hepatomegaly, Normocytic anemia, Neutropenia OMIM:617941
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Reduced bone mineral density, Abnormal pulmonary valve morphology, Hypophosphat... ORPHA:667
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Khan-Khan-Katsanis Syndrome
Anemia, Corneal scarring, Neutropenia, Lymphopenia, Patent foramen ovale, Joint contracture OMIM:618460
Herpes Simplex Virus Encephalitis
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia ORPHA:1930
Knobloch Syndrome 1
Cortical cataract, Band keratopathy, Persistent pupillary membrane, Lens subluxation, Development... OMIM:267750
Foodborne Botulism
Mydriasis ORPHA:228371
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration, Anemia OMIM:618838
Attrv122I Amyloidosis
Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Increased circulating NT-proBNP concen... ORPHA:85451
Leigh Syndrome
Ventricular septal defect, Anemia, Hyperalaninemia, Hypertrophic cardiomyopathy, Multiple joint c... ORPHA:506
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperammonemia, Megaloblastic anemia, Methylmalonic acidemia, Elevated circulating palmitoleylcar... ORPHA:79282
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphakia, Posterior synechiae of the anterior chamber, Cho... OMIM:612109
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Hypouricemia, Autoimmu... ORPHA:760
Abnormal uvea morphology, Anisocoria, Conjunctival hyperemia, Conjunctivitis ORPHA:863
Megalocornea-Mental Retardation Syndrome
Megalocornea, Hypoplasia of the iris, Iridodonesis, Osteopenia OMIM:249310
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia OMIM:619767
Uveitis, Cellulitis, Hypopyon, Heterochromia iridis, Leukocoria ORPHA:790
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, Cor pulmonale, B lymphocytopenia, Neutropenia OMIM:300755
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... ORPHA:54251
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Contracture of the proximal interphalangeal joint of the 4th finger, Contractur... OMIM:618223
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia, Reduced natural killer c... ORPHA:276
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... OMIM:615952
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia ORPHA:169160
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Congenital diaphragmatic hernia ORPHA:250999
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Ventricular septal defect, Tetralogy of Fallot, Double out... ORPHA:163956
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse, Neutropenia ORPHA:193
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eosinophilia, B lymphocytopenia, Abnormally low... OMIM:602450
Dent Disease
Rickets, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration... ORPHA:1652
Fanconi Anemia, Complementation Group D2
Anemia, Leukemia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Pancytopenia, N... OMIM:227646
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Hyperuricemia, Enlarged kidney, Anemia, Chronic neutropeni... ORPHA:79259
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... ORPHA:3261
Scalp-Ear-Nipple Syndrome
Cataract, Iris coloboma, Anisocoria, Developmental cataract, Multiple lipomas OMIM:181270
Diamond-Blackfan Anemia 1
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F, Reticulocytopenia, ... OMIM:105650
Late-Onset Retinal Degeneration
Iris transillumination defect, Abnormal anterior eye segment morphology, Abnormal suspensory liga... ORPHA:67042
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst, Abscess, Granuloma, Lymphopenia, ... OMIM:618935
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Kikuchi-Fujimoto Disease
Myocarditis, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphocytosis, Elevated circulat... ORPHA:50918
Legionnaires Disease
Myocarditis, Endocarditis, Lymphopenia, Hyponatremia, Cellulitis, Pericarditis, Splenomegaly ORPHA:549
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Craniosynostosis, Hepatomegaly, Thrombocyto... ORPHA:525731
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Generalized osteoporosi... ORPHA:391487
Mirage Syndrome
Radial club hand, Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Hyperkalemia, Thrombocytop... OMIM:617053
Icf Syndrome
Umbilical hernia, Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Raine Syndrome
Increased bone mineral density, Hypophosphatemia, Enamel hypoplasia, Arthrogryposis multiplex con... OMIM:259775
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Anemia, Panniculitis, Elevated circulating C-reactive p... ORPHA:3243
Norrie Disease
Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal pupil morphology, Aplasia/Hypoplas... ORPHA:649
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Splenomegaly OMIM:616100
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosi... OMIM:243150
Hereditary Fructose Intolerance
Hyperuricemia, Hepatomegaly, Hypermagnesemia, Hypophosphatemia ORPHA:469
Isotretinoin-Like Syndrome
Conotruncal defect, Inguinal hernia, Abnormal cardiac atrium morphology, Lymphopenia, Bicuspid ao... ORPHA:2306
Toxic Epidermal Necrolysis
Abnormal myocardium morphology, Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Myocarditis, Osteolysis, Endocarditis, Cellulitis, Splenic abscess, Fasciitis, Pericarditis, Brai... ORPHA:73263
Cystinosis, Nephropathic
Rickets, Hypophosphatemia, Hepatomegaly, Hypokalemia, Hypophosphatemic rickets, Reduced blood ure... OMIM:219800
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Camptodactyly, Inguinal hernia, Enlarged kidney, Ventricular septal defect, Chronic neutropenia, ... ORPHA:500095
Hermansky-Pudlak Syndrome
Cardiomyopathy, Abnormal dental enamel morphology, Neutropenia ORPHA:79430
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ectopia pupillae, Astigmatism, Hypoplasia of the iris, Corneal opacity, Developmental cataract, C... OMIM:175780
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Inguinal hernia OMIM:618653
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Spontaneous conjunctival filtering bleb, Spherophakia, Sh... OMIM:601552
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Sickle Cell Disease
Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Cardiomegaly, Spl... OMIM:603903
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Delayed ossification of carpal bones, Osteopenia, Neutropenia OMIM:271510
Oculodentodigital Dysplasia
Cataract, Camptodactyly of finger, Abnormal cortical bone morphology, Umbilical hernia, Hyperosto... ORPHA:2710
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia ORPHA:36238
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Hypophosphatemia, Osteoporosis, Lipoma, Hypercalcemia ORPHA:99880
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Osteoporosis-Pseudoglioma Syndrome
Cataract, Pathologic fracture, Osteoporosis, Iris atrophy, Osteopenia, Increased susceptibility t... OMIM:259770
Weill-Marchesani Syndrome 2
Cataract, Ectopia lentis, Joint stiffness, Flexion contracture of toe, Astigmatism, Iridodonesis,... OMIM:608328
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Osteomalac... ORPHA:3337
Parathyroid Carcinoma
Chondrocalcinosis, Hypophosphatemia, Osteoporosis, Lipoma, Hypercalcemia ORPHA:143
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Charcot-Marie-Tooth Disease Type 4C
Anisocoria ORPHA:99949
Leukocoria OMIM:180200
Serotonin Syndrome
Mydriasis ORPHA:43116
Glycogen Storage Disease Ic
Hyperlipidemia, Hepatomegaly, Hyperuricemia, Cyclic neutropenia OMIM:232240
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD3-positive T cell... ORPHA:331235
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Osteoporosis, Lymphopenia, Increased mean corpuscular volume... OMIM:127550
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Inguinal hernia, Lymphopenia, Anemia ORPHA:935
Craniotubular Dysplasia, Ikegawa Type
Thin bony cortex, Mydriasis, Sclerosis of skull base OMIM:619727
Superficial Siderosis