Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Dtnbp1 MGI:2137586

Gene Summary

Name:

dystrobrevin binding protein 1

Synonyms:

sdy, Bloc1s8, 5430437B18Rik, dysbindin

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased grip strength	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.41×10^-05
abnormal coat/hair pigmentation	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.53×10^-19
abnormal iris pigmentation	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.35×10^-18
decreased lymphocyte cell number	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.09×10^-07
increased lymphocyte cell number	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.33×10^-05
preweaning lethality, incomplete penetrance	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased fasting circulating glucose level	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.83×10^-06
increased neutrophil cell number	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.10×10^-12
abnormal retina morphology	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.13×10^-12
impaired glucose tolerance	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.09×10^-05
increased circulating phosphate level	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.36×10^-05
abnormal uterus morphology	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased exploration in new environment	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.02×10^-05
increased leukocyte cell number	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.89×10^-08

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.

Combined SHIRPA and Dysmorphology

Images

19 Images

View images

X-ray

XRay Images Hind Leg and Hip

15 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

View images

Eye Morphology

Images Ophthalmoscopy

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

View images

X-ray

XRay Images Skull Lateral Orientation

15 Images

View images

Histopathology

Images

4 Images

View images

Eye Morphology

Images Slit Lamp

4 Images

View images

Human diseases caused by Dtnbp1 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.

Human diseases associated with Dtnbp1 (1 diseases)
Human diseases predicted to be associated with Dtnbp1 (1277 diseases)

The table below shows human diseases associated to Dtnbp1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 7		Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi...	OMIM:614076

The table below shows human diseases predicted to be associated to Dtnbp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Abnormality of...	OMIM:155100
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o...	OMIM:614072
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi...	OMIM:614076
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Hypop...	OMIM:614171
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi...	OMIM:614074
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Redu...	OMIM:619172
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggreg...	OMIM:617443
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal platelet granules, Albinism, Impa...	OMIM:614075
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections	OMIM:614493
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency, Anemia	ORPHA:655
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Myh9-Related Disease	Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr...	ORPHA:182050
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su...	OMIM:601399
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Thrombocytopenia 2	Leukocytosis, Bruising susceptibility, Thrombocytopenia	OMIM:188000
Severe Combined Immunodeficiency, X-Linked	Recurrent bacterial meningitis, Reduced natural killer cell activity, Recurrent pneumonia, Agamma...	OMIM:300400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto...	OMIM:153670
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility...	OMIM:614009
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Schizophrenia 15	Hyperactivity	OMIM:613950
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, R...	OMIM:607624
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ...	OMIM:103500
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip...	OMIM:614077
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism	ORPHA:90023
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially dupli...	ORPHA:274
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Hypogonadotropic hypogonadism, Hypoplasia of penis, Long eyebrow...	OMIM:275400
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus	ORPHA:3319
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men...	OMIM:616176
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria	OMIM:236130
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed a...	OMIM:203300
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Albinism...	OMIM:608233
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf...	OMIM:605258
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Abnormal bleeding, Glomerulonephritis, Increased circulating IgA level, Hematuria, Thrombocytopenia	OMIM:314000
3-Methylglutaconic Aciduria Type 4	Cataract, Hypoglycemia, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Phenylketonuria	Maternal hyperphenylalaninemia, Cataract, Blue irides, Depression, Irritability, Attention defici...	OMIM:261600
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi...	ORPHA:352731
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi...	ORPHA:79476
Immunodeficiency 14B, Autosomal Recessive	Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula...	OMIM:619281
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipidemia, Premature...	ORPHA:79477
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Gray Platelet Syndrome	Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,...	ORPHA:721
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Malaria	Anemia, Acute kidney injury, Retinopathy, Thrombocytopenia	ORPHA:673
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I...	ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased plate...	OMIM:603585
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Hypoparathyroidism, Familial Isolated, 1	Cataract, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Transcobalamin Deficiency	Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti...	ORPHA:859
Autoimmune Hypoparathyroidism	Cataract, Confusion, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, H...	ORPHA:36913
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia	OMIM:614082
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Liberfarb Syndrome	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ...	OMIM:618889
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Abnormal circu...	ORPHA:2196
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ...	ORPHA:79414
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Silver-gray...	ORPHA:381
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos...	OMIM:210250
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Alopecia, Reduced natural killer cell activity, Recurrent upp...	OMIM:615559
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutro...	OMIM:266130
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Thrombocytopenia	OMIM:613606
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Subcutaneous hemorrhage	ORPHA:1980
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Neurofibromatosis-Noonan Syndrome	Multiple cafe-au-lait spots, Prolonged bleeding time	ORPHA:638
Sea-Blue Histiocytosis	Abnormal bleeding, Hyperpigmentation of the skin, Splenomegaly, Thrombocytopenia, Sea-blue histio...	ORPHA:158029
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Purpura	ORPHA:529
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec...	OMIM:308240
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ...	OMIM:613101
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment...	ORPHA:177910
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Wolfram Syndrome 2	Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating ant...	OMIM:604928
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Refractory Anemia	Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro...	ORPHA:98826
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany	OMIM:612462
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity	OMIM:608898
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Abnormal cornea morphology, Hypophosphatemia, Mental deterioration, ...	ORPHA:2611
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil...	OMIM:214500
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair	OMIM:269600
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chronic kidney disease, Stage 5 chronic k...	ORPHA:3156
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail m...	ORPHA:75564
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Thrombocytopenia	ORPHA:3327
Usher Syndrome Type 3	Depression, Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Synophrys, Cognitive i...	ORPHA:1390
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Polycystic ovaries, Premature graying of hair, Type ...	ORPHA:100
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Optic atrophy, Depression, Hyperphosphatemia, Hypocalce...	ORPHA:428
Pseudohypoparathyroidism, Type Ia	Cataract, Hyperphosphatemia, Hypogonadism, Cognitive impairment, Hypocalcemic tetany	OMIM:103580
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Red hair, Fair hair	OMIM:614613
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Optic atrophy, Neutropenia, Hydronephros...	OMIM:598500
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th...	ORPHA:324636
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Zika Virus Disease	Subcutaneous hemorrhage, Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottl...	ORPHA:448237
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Acquired Partial Lipodystrophy	Insulin resistance, Lymphocytosis, Generalized hirsutism	ORPHA:79087
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Micropenis, Retinal degeneration	ORPHA:3363
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Methionine Malabsorption Syndrome	White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Wt Limb-Blood Syndrome	Pancytopenia, Leukemia, Irregular hyperpigmentation, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Thrombocytopenia 5	Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula...	OMIM:616216
Usher Syndrome Type 1	Depression, Cataract, Iris hypopigmentation	ORPHA:231169
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Thrombocytopenia, Anemia	ORPHA:858
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Eem Syndrome	Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Macular dystrophy, Retino...	ORPHA:1897
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,...	OMIM:612925
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos...	OMIM:127000
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology, Sea-blue his...	OMIM:607616
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Hematuria, Internal hemo...	ORPHA:90308
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Generalize...	ORPHA:2720
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,...	OMIM:239000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612926
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, ...	ORPHA:94089
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612924
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,...	ORPHA:411527
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Thrombocytop...	ORPHA:275555
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Optic atrophy, Renal tubular dysfunction, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Nephropathy, Prolonged bleed...	OMIM:301000
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Riboflavin Transporter Deficiency	Optic disc pallor, Abnormality of macular pigmentation, Hypogonadism, Iris hypopigmentation	ORPHA:97229
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thromb...	ORPHA:290
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Hyperpigmentation of the skin, Increased circulating ferritin conc...	OMIM:604250
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Optic atrophy, Pigme...	OMIM:222300
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Thrombocytopenia, Leukopenia, Bone marrow ...	OMIM:619151
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Sanjad-Sakati Syndrome	Hypoplasia of penis, Corneal opacity, Cryptorchidism, Astigmatism, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures	OMIM:241410
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia...	ORPHA:91547
Tonne-Kalscheuer Syndrome	Hypospadias, Concave nail, Cryptorchidism, Blue irides, Fine hair, Small nail, Micropenis, Decrea...	OMIM:300978
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Blue irides, Optic atrophy, Melanocytic nevus, Hyperphosphatemia, Hypogonadism	OMIM:101800
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Developmental cataract, Anemia, Retinal calcification, Hyperphosphatemia, Hypocalcem...	ORPHA:93325
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili...	OMIM:300367
Pseudohypoparathyroidism Type 1C	Calcinosis, Cataract, Hypergonadotropic hypogonadism, Confusion, Depression, Irritability, Hyperp...	ORPHA:79444
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Optic at...	OMIM:249270
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Tufted Angioma	Purpura, Petechiae, Thrombocytopenia, Anemia, Hypertrichosis	ORPHA:1063
Classic Phenylketonuria	Hypopigmentation of hair, Depression, Attention deficit hyperactivity disorder, Mental deteriorat...	ORPHA:79254
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Renal insufficiency, Anemia, Renal hypoplasia/aplasia	ORPHA:2123
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen...	OMIM:603909
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th...	OMIM:243500
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like depo...	OMIM:211900
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Reticulated skin pigmentation, Ureth...	OMIM:613990
Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Cognitive impairment, Congenital statio...	ORPHA:90646
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia...	ORPHA:3322
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Alopecia, Splenomegaly, L...	ORPHA:809
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Optic disc pallor, Petechiae, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:611490
Aplasia Cutis-Myopia Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation	ORPHA:1117
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Intellectual Developmental Disorder, Autosomal Recessive 38	Diminished ability to concentrate, Blue irides	OMIM:615516
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Low po...	ORPHA:85194
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature grayi...	OMIM:613989
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Reticulated skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, Thrombo...	OMIM:613987
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	External genital hypoplasia, Frontal balding, Early balding, Blue irides, Hypogonadism, Micropeni...	ORPHA:3041
Congenital Disorder Of Glycosylation, Type Iik	Hemolytic-uremic syndrome, Thrombocytopenia	OMIM:614727
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys, Low posterior hairline, Generalized hirsutism, Hirsutism	ORPHA:1895
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Mgat2-Cdg	Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat...	ORPHA:79329
Leber Congenital Amaurosis 1	Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Attenuation of reti...	OMIM:204000
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Hemochromatosis, Type 4	Diabetes mellitus, Cataract, Impaired glucose tolerance, Hyperpigmentation of the skin, Increased...	OMIM:606069
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Hypergonadotropic hypogonadism, Confusion, Band keratopathy, Depression, Ir...	ORPHA:79443
Immunodeficiency 10	Hypoplasia of the iris, Nail dysplasia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Hypopl...	OMIM:214110
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Thrombocytopenia	ORPHA:79312
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Macrocytic anemia, Optic atrophy, Anemia, Leukopenia, Thrombocytopenia	ORPHA:27
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Atelis Syndrome 1	Anemia, Leukopenia, Irregular hyperpigmentation, Cafe-au-lait spot, Thrombocytopenia	OMIM:620184
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Splenomegaly, Iris hypopigmentation	ORPHA:834
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni...	OMIM:614172
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc...	ORPHA:520
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Jeune Syndrome	Nephropathy, Renal insufficiency, Abnormality of retinal pigmentation, Nephronophthisis	ORPHA:474
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma...	ORPHA:79430
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, H...	ORPHA:791
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Polycy...	ORPHA:2969
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal dystrophy, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Hemolytic-uremic syn...	OMIM:619644
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia	OMIM:152700
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Noonan Syndrome 13	Highly arched eyebrow, Cryptorchidism, Blue irides, Low posterior hairline, Multiple lentigines, ...	OMIM:619087
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Hypospadias, Brushfield spots, Cryp...	ORPHA:912
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Alopecia, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia	OMIM:615085
Noonan Syndrome 4	Abnormal bleeding, Ureteral duplication, Curly hair, Sparse eyebrow, Blue irides, High anterior h...	OMIM:610733
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Sparse hair	ORPHA:1264
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Babesiosis	Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukopenia, Thrombocytopenia	ORPHA:108
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytopenia	OMIM:620365
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Leukopenia, Chorioretinal hypopigmentation, Coarse hair, Neutro...	OMIM:617303
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Generalized hyperpigmentation, Retinop...	ORPHA:816
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Hypermelanotic macule, Abnormal immunoglobulin le...	OMIM:242900
Lymphangiectasia, Intestinal	Abnormal hair morphology, Stillbirth, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur...	OMIM:613266
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Stt3B-Cdg	Micropenis, Optic atrophy, Thrombocytopenia	ORPHA:370924
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
Transaldolase Deficiency	Thrombocytopenia, Abnormality of the kidney, Anemia, Hepatosplenomegaly	ORPHA:101028
Gaucher Disease, Type I	Pancytopenia, Hyperpigmentation of the skin, Epistaxis, Macular atrophy, Hypersplenism, Thrombocy...	OMIM:230800
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Abn...	OMIM:227650
Specific Granule Deficiency 2	Absent neutrophil specific granules, Hirsutism, Anemia, Fragile nails, Nail dysplasia, Neutropeni...	OMIM:617475
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Renal hypoplasia/aplasia, Num...	ORPHA:2481
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration	OMIM:520000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret...	OMIM:600901
Acquired Purpura Fulminans	Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb...	ORPHA:49566
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Macular degeneration, Optic atrophy	OMIM:164500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease...	OMIM:613845
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Autoinflammation With Infantile Enterocolitis	Meningitis, Reduced natural killer cell activity	OMIM:616050
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hy...	OMIM:262190
Congenital Disorder Of Glycosylation, Type Ix	Micropenis, Optic atrophy, Thrombocytopenia	OMIM:615597
Primary Myelofibrosis	Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ...	ORPHA:824
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Cryptorchidism, Ocular albinism, Choroiderem...	ORPHA:2719
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Abnormality of the kidney, Macular degeneration, Rod-con...	OMIM:613464
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Hemorrhagic Fever-Renal Syndrome	Confusion, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyp...	ORPHA:340
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Cln3 Disease	Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating androgen con...	ORPHA:228346
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Leishmaniasis	Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia...	ORPHA:507
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Prader-Willi Syndrome	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas...	OMIM:176270
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Reticular hyperpigmentation, Nail pits,...	OMIM:127550
Macs Syndrome	Prolonged bleeding time, Alopecia, Sparse eyebrow, Urethral stenosis, Sparse hair, Bruising susce...	OMIM:613075
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto...	OMIM:185070
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic a...	ORPHA:35858
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Sparse eyelashes...	OMIM:224230
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia	OMIM:600151
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Cystinosis	Corneal opacity, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Retinopathy	ORPHA:213
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Iris coloboma, A...	ORPHA:1791
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Snakebite Envenomation	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Gingival bleeding, Ecchymosis, Acute kidne...	ORPHA:449285
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating Ig...	OMIM:304790
Colchicine Poisoning	Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal...	ORPHA:31824
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Hydronephrosis, Abnormality of ...	ORPHA:873
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Beau's lines, Leukonychia	OMIM:234580
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Brushfield spots, Hypopigmented skin patches, Anonychia, Aplasia/Hypo...	ORPHA:1784
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Recurrent urinary tract infections, Autoimmune hemolytic anemia,...	OMIM:619802
Vici Syndrome	Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Optic atrophy, Ureteral at...	ORPHA:1493
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Boutonneuse Fever	Renal insufficiency, Petechiae, Leukopenia, Increased circulating IgG level, Increased circulatin...	ORPHA:83313
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Wyburn-Mason Syndrome	Irritability, Retinal vascular malformation, Iris hypopigmentation	ORPHA:53719
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Microa...	OMIM:274150
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Epistaxis, Angioid streaks of the fundus, Prolonged prothrombin time, Retinal ...	OMIM:610842
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an...	OMIM:235400
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Small scrotum, Diabetes mellitus, External genital hypoplasia, Hypogona...	ORPHA:98754
Laurence-Moon Syndrome	Pigmentary retinopathy, Micropenis, Chorioretinal atrophy	OMIM:245800
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c...	OMIM:613011
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Decreased prop...	OMIM:619846
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Small scrotum, Diabetes mellitus, External genital hypoplasia, Hypogona...	ORPHA:98793
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Mental deterio...	OMIM:617575
Ramon Syndrome	Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Prolidase Deficiency	Petechiae, Hyperimidodipeptiduria, Splenomegaly, Low posterior hairline, Anemia, Increased circul...	OMIM:170100
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow	OMIM:617121
Blue Rubber Bleb Nevus	Iron deficiency anemia, Intestinal bleeding, Hypermelanotic macule, Thrombocytopenia	OMIM:112200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Small scrotum, Diabetes mellitus, External genital hypoplasia, Hypogona...	ORPHA:177904
Noonan Syndrome	Abnormal bleeding, Abnormal hair quantity, Abnormality of the spleen, Melanocytic nevus, Low post...	ORPHA:648
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Small scrotum, Diabetes mellitus, External genital hypoplasia, Hypogona...	ORPHA:177901
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Hypospadias, Brushfield spots, Splenomegaly, Cryptorchidism, Conjugated hyperbilirubine...	OMIM:614866
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H...	ORPHA:466650
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Small nail, Neutropenia, Thrombocy...	OMIM:614520
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia,...	OMIM:618886
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Glucose intolerance, Leukopenia, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial...	OMIM:251000
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Absent platelet dense granules, Ocular albinism, Albinism	OMIM:614073
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ...	OMIM:226990
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo...	ORPHA:244242
Acute Radiation Syndrome	Abnormal bleeding, Thrombocytopenia, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin,...	ORPHA:454831
Portal Hypertension, Noncirrhotic, 2	Petechiae, Epistaxis, Splenomegaly, Ecchymosis, Thrombocytopenia	OMIM:619463
Thrombocytopenia 1	Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate...	OMIM:313900
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Alopecia, Proteinuria, Hematuria, Nephrotic syndrome, Leukopenia...	ORPHA:93552
Retinitis Pigmentosa 46	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:612572
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegal...	OMIM:614576
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Usher Syndrome Type 2	Depression, Cataract, Iris hypopigmentation	ORPHA:231178
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Renal cell carcinoma	ORPHA:122
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Increa...	ORPHA:91500
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellula...	ORPHA:101096
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Hypermelanotic macule, Impaired T cell function, Minimal change glomeru...	ORPHA:1830
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Functional abnormality of the bladder, Yellow/white lesions of the retina...	ORPHA:100996
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv...	ORPHA:99828
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret...	OMIM:227645
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Felty Syndrome	Recurrent urinary tract infections, Generalized hyperpigmentation, Thrombocytopenia, Splenomegaly...	ORPHA:47612
Leukocyte Adhesion Deficiency	Abnormal bleeding, Acute myeloid leukemia, Recurrent urinary tract infections, Glomerulonephritis...	ORPHA:2968
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,...	ORPHA:436271
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Diabetes mellitus, Retinopathy, Progressive neurologic de...	OMIM:219800
Dent Disease 2	Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia	OMIM:300555
Thrombocytopenia 6	Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:616937
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Bone spicule pigmentation of the retina, Urinary incontinence...	OMIM:609033
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Vici Syndrome	Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Macular a...	OMIM:242840
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c...	OMIM:617021
Drug-Induced Lupus Erythematosus	Hematuria, Thrombocytopenia, Anemia, Petechiae	ORPHA:231111
Sengers Syndrome	3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Abnormal r...	ORPHA:2715
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Multicystic kidney dysplasia, Thrombocytopenia	OMIM:619980
Angelman Syndrome	Keratoconus, Optic disc pallor, Precocious puberty in females, Optic atrophy, Astigmatism, Fair h...	ORPHA:72
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Thrombocytopenia	ORPHA:79242
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypophosphatemia, Fasting hy...	ORPHA:2088
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Hypertrichosis, Anemia, Leukopenia, Prolonged prothrombin time...	ORPHA:2330
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:47
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Thick hair, Heparan sulfate excretion in urine,...	ORPHA:505248
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cataract, Diabetes mellitus, Thrombocytopenia, Splenomegaly, Hypom...	ORPHA:699
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst	OMIM:605231
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag...	OMIM:615994
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Juvenile Temporal Arteritis	Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Juvenile Xanthogranuloma	Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple cafe-au-la...	ORPHA:158000
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le...	ORPHA:64743
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Micropenis	ORPHA:370968
Congenital Fibrinogen Deficiency	Abnormal bleeding, Abnormality of the subungual region, Internal hemorrhage, Splenic rupture, Pro...	ORPHA:335
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy...	OMIM:208085
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Squalene Synthase Deficiency	Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, Bilateral cryp...	OMIM:618156
Propionic Acidemia	Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemorrhage,...	OMIM:606054
Bardet-Biedl Syndrome 9	Renal insufficiency, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degener...	OMIM:615986
Familial Hemophagocytic Lymphohistiocytosis	Petechiae, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Decreased circul...	ORPHA:540
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia	ORPHA:89937
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic...	OMIM:600462
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia	OMIM:620195
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Renal hypoplasia, Anemia, Leukopenia, Cafe-au-lait spot, Microphallus, Bone mar...	OMIM:603467
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hyperinsulinemia	ORPHA:3085
Incontinentia Pigmenti	Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patch...	OMIM:308300
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Reticular hyperpigmentation, Premature graying of hair, Nail dystrophy, Abnormally ...	OMIM:619767
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Glycosuria	OMIM:618913
Joubert Syndrome 3	Retinal dystrophy, Highly arched eyebrow, Stage 5 chronic kidney disease, Pigmentary retinopathy,...	OMIM:608629
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, U...	OMIM:607115
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas...	OMIM:618048
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi...	OMIM:617052
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr...	ORPHA:99147
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures	ORPHA:71526
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair,...	ORPHA:99429
Intermediate Osteopetrosis	Thrombocytopenia, Optic atrophy from cranial nerve compression, Anemia, Hepatosplenomegaly	ORPHA:210110
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,...	OMIM:220110
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Stage 5 chronic kidney...	OMIM:268315
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Optic atrophy, Fine hair, Premature graying of hair, Anemia, Intestinal b...	OMIM:612199
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura	OMIM:605432
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect	OMIM:617306
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia	OMIM:616026
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Infantile Nephropathic Cystinosis	Corneal crystals, Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Abn...	ORPHA:411629
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Fetal Gaucher Disease	Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia	ORPHA:85212
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Pigmentary retinopath...	OMIM:214100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Smith-Kingsmore Syndrome	Curly hair, Cafe-au-lait spot, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corne...	ORPHA:636
Prolidase Deficiency	Abnormality of retinal pigmentation, Recurrent cystitis, Abnormal fingernail morphology, Splenome...	ORPHA:742
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Cog4-Cdg	Thick hair, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Splenomegaly, Nail dysplasia, Retinopathy	ORPHA:773
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur...	OMIM:614105
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatos...	ORPHA:98850
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric a...	OMIM:253270
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Glycosuria	OMIM:308990
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Splenomegaly, Optic atrophy, Coarse hair, Mucopolysaccharidu...	ORPHA:585
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Gaucher Disease Type 1	Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria, Leukopenia, ...	ORPHA:77259
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
Hereditary Folate Malabsorption	Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased c...	ORPHA:90045
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Neonatal Lupus Erythematosus	Abnormal bleeding, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegal...	ORPHA:398124
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi...	ORPHA:1667
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic aciduria, Normochromic anemia, Neutropenia, Homocystinuria, Thrombocytopenia	OMIM:614857
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch...	OMIM:267750
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Proximal tubulopathy, Polyuria, Mottled pigmentation of photoexposed areas	OMIM:560000
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple	ORPHA:1173
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic syndr...	ORPHA:110
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Rift Valley Fever	Abnormal bleeding, Retinitis, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Macular edema, M...	ORPHA:319251
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Optic atrophy, Hepatosplenomegaly, Anemia, Thrombocyt...	OMIM:259710
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Alopecia, Absent eyebrow, Thrombocytopenia, Splenomegaly, Loss of eyelashes, Re...	OMIM:263700
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Hematuria, Anemia, Thrombocytopenia	ORPHA:90060
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret...	OMIM:227646
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Mogs-Cdg	Alopecia, Fair hair, Optic atrophy, Hirsutism, Decreased circulating antibody level, Hepatospleno...	ORPHA:79330
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Bilateral cryptorchidism, Developmental cataract, Neutropenia, Tiger tail...	OMIM:616395
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Congenital Disorder Of Glycosylation, Type Iic	Widow's peak, Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Kearns-Sayre Syndrome	Renal tubular acidosis, Sideroblastic anemia, Renal Fanconi syndrome, Pigmentary retinopathy	OMIM:530000
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Macular coloboma, Megaloblastic anemia, Hemolytic...	ORPHA:79282
Mulibrey Nanism	Pigmentary retinopathy, Nephroblastoma, Iris coloboma	OMIM:253250
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly, Ocular albinism, Albinism	OMIM:617050
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc...	OMIM:301078
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Optic nerve hypoplasia, Hirsutism, Leukopenia, Small n...	OMIM:301056
Immunodeficiency 22	Anemia, Decreased circulating total IgM, Retinal vasculitis, Decreased circulating IgE, Decreased...	OMIM:615758
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Iris hypopigmentation	ORPHA:284160
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemia, Glycosuria,...	OMIM:227810
Tularemia	Thrombocytopenia, Leukocytosis, Increased circulating antibody level, Anemia	ORPHA:3392
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration...	ORPHA:36238
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia, Cerebellar hemorrhage, Dicarboxylic aciduria, Prolonged prothrombin time	ORPHA:99901
Vitamin D-Dependent Rickets, Type 2A	Irritability, Hypocalcemic seizures, Alopecia universalis, Hypophosphatemia	OMIM:277440
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Attention d...	ORPHA:177907
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Nail-Patella Syndrome	Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Fingernail dyspla...	ORPHA:2614
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Mirage Syndrome	Hyponatremia, Hypoglycemia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperkal...	OMIM:617053
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Rod-cone dystrophy, Optic atrophy, Thrombocytopenia	OMIM:617710
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Hypertrichosis	OMIM:256000
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor...	ORPHA:233
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Fasting hyperinsulinemia, Pigmentary retinopathy, Prolonged prothrombin ti...	ORPHA:71212
Maternal Uniparental Disomy Of Chromosome 6	Rod-cone dystrophy, Thrombocytopenia, Increased serum testosterone level	ORPHA:96181
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Decreased circulating parathyroid hormone level, Asplenia, Nephrocalcinosis, Pigmentary...	OMIM:240300
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Familial Dysautonomia	Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heteroc...	ORPHA:1764
Koolen-De Vries Syndrome	Cataract, Abnormality of hair texture, Cryptorchidism, Fair hair, Iris hypopigmentation	OMIM:610443
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ...	ORPHA:163746
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Prolonged prothrombin time, Hydroureter	OMIM:616559
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Neutropenia, Anemia	OMIM:251110
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Normochromic anemia, Alopecia totalis, Thrombocytopenia	OMIM:618775
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn...	ORPHA:1775
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Hemolytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:169090
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Leukopenia, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Neutropen...	OMIM:616271
Lysinuric Protein Intolerance	Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Fine hair, Leukopenia, Aminoacidu...	OMIM:222700
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Congenital Erythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Facial hypertrichosis, Anisocytosis, Thromb...	ORPHA:79277
Pseudo-Torch Syndrome 2	Thrombocytopenia, Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Petechiae	OMIM:617397
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenome...	ORPHA:464329
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Micropenis	OMIM:613156
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem...	ORPHA:464321
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Increased circulating antibod...	ORPHA:319218
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Hypopigmentation of hair, Progressive neurologic deterio...	ORPHA:70472
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Glycosuria	OMIM:134600
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Renal insufficiency, Petechiae	OMIM:251290
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse ...	OMIM:129900
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased testicular size, Hyponatremia, Clitoral hypertrophy, Generalized hyperpigmentation, Fem...	ORPHA:168558
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Thrombocytopenia, Methylma...	OMIM:251100
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Precocious puberty, Large cafe-au-lait macules wit...	ORPHA:562
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho...	ORPHA:193
Lig4 Syndrome	Pancytopenia, Low anterior hairline, Acute lymphoblastic leukemia, Micropenis, Thrombocytopenia	OMIM:606593
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decreased proportion of memory B cells...	ORPHA:79124
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse ...	OMIM:604292
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu...	OMIM:603553
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h...	ORPHA:2221
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Optic atrophy, Abnormal localization of...	ORPHA:2510
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Hypospadias, Alopecia, Sparse eyel...	OMIM:305000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased testicular size, Hyponatremia, Clitoral hypertrophy, Generalized hyperpigmentation, Fem...	ORPHA:289548
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Fluctuating splenomegaly, Thrombocytopenia, Leu...	OMIM:610377
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto...	ORPHA:391673
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiation, Cafe-au-l...	OMIM:618541
Sepsis In Premature Infants	Abnormal bleeding, Thrombocytopenia, Leukocytosis, Splenomegaly, Oliguria, Anemia, Reversible ren...	ORPHA:90051
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brittle hair, Remnants of the hyaloid vascular system, Highly ...	OMIM:619539
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Splenomegal...	OMIM:309900
Alg8-Cdg	Retinopathy, Thrombocytopenia, Optic atrophy, Anemia	ORPHA:79325
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Fibrous Dysplasia Of Bone	Diabetes mellitus, Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Large cafe-...	ORPHA:249
Ataxia-Telangiectasia	Conjunctival telangiectasia, Lymphopenia, Diabetes mellitus, Female hypogonadism, Elevated circul...	OMIM:208900
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Optic disc coloboma, Low posterior hairline, Microcornea, Retinoschisis, H...	ORPHA:2995
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernai...	ORPHA:974
Congenital Enterovirus Infection	Abnormal bleeding, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Leukopenia, Ne...	ORPHA:292
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Retinal pi...	OMIM:251260
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Cataract, Diabetes mellitus, Cryptorchidism, Insulin re...	OMIM:616541
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration	ORPHA:79264
Retinitis Pigmentosa 74	Pigmentary retinopathy, Abnormal renal morphology, Optic disc pallor, Rod-cone dystrophy	OMIM:616562
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Synophrys, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dysplasia, Hypoammonemi...	ORPHA:534
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Pigmentary retinopathy	ORPHA:3208
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Hypoa...	ORPHA:247353
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Takenouchi-Kosaki Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Highly arched eyebrow, Sp...	OMIM:616737
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas...	ORPHA:398079
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Cystathioninuria, Thrombocytopenia, Methylmalonic aciduria, N...	OMIM:277380
Hereditary Fructose Intolerance	Cataract, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:259700
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni...	ORPHA:447
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Thrombocytopenia	OMIM:611126
Congenital Disorder Of Glycosylation, Type Ih	Decreased circulating T4 concentration, Thrombocytopenia, Anemia	OMIM:608104
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Mixed hypo- and hyperpigme...	ORPHA:79456
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Giant platelets, H...	OMIM:611209
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Leukopenia, Retinopa...	ORPHA:536
Estrogen Resistance	Impaired glucose tolerance, Hyperinsulinemia, Polycystic ovaries, Hypoplasia of the uterus, Gluco...	OMIM:615363
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Cryptorchidism, Hypopigmented skin patches, Hepatosplenomegaly, W...	OMIM:609136
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Hypoplasia of the uterus, Facial hirsutism, High anter...	ORPHA:247768
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Aplastic anemia, Renal agenesis, Micropenis, Thrombocytopenia	OMIM:300514
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Alg12-Cdg	Retinal detachment, Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of...	ORPHA:79324
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Sp...	OMIM:259720
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ...	OMIM:250250
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Glycosuria	OMIM:613388
Werner Syndrome	Renal neoplasm, Abnormality of retinal pigmentation, Sparse scalp hair, Abnormal hair whorl, Prem...	ORPHA:902
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo...	ORPHA:411634
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Nail dystrophy, Elevated circulating C-reactive protein concentration	OMIM:614204
Wilson Disease	Splenomegaly, Thrombocytopenia, Bruising susceptibility, Anemia	ORPHA:905
Lujo Hemorrhagic Fever	Lymphopenia, Renal insufficiency, Excessive bleeding after a venipuncture, Leukocytosis, Oliguria...	ORPHA:319213
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, Alopecia of scalp, B lymphocyt...	OMIM:602450
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy...	OMIM:620072
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Alstrom Syndrome	Cone/cone-rod dystrophy, Renal insufficiency, Alopecia, Hyperinsulinemia, Tubulointerstitial neph...	OMIM:203800
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Catastrophic Antiphospholipid Syndrome	Abnormality of the kidney, Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microang...	ORPHA:464343
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration	ORPHA:676
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary re...	ORPHA:96180
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Synophrys, Lymphopenia	ORPHA:391307
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:617941
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Recon Progeroid Syndrome	Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Anemia, Thrombocytopenia	OMIM:620370
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Decreased circulating antibody...	ORPHA:169105
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Macrocephaly/Autism Syndrome	Short attention span, Penile freckling, Splenomegaly, Hydrocele testis, Coarse hair, Lymphopenia	OMIM:605309
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	ORPHA:216866
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Syndromic Diarrhea	Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu...	ORPHA:84064
Castleman Disease	Renal insufficiency, Thrombocytopenia, Hematuria, Decreased mean corpuscular volume, Ureteral obs...	ORPHA:160
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Hypercalciuria, Reticulocytopenia, 3-Methyl...	OMIM:557000
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Aminoaciduria, Anemia	OMIM:614946
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Curly eyelashes, Ectopic kidney, Highly arched eyebrow, Synophrys, Abno...	OMIM:122470
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Hypochromic microcytic anemia, Macular de...	ORPHA:48818
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Diabetes mellitus, Septate vagina, Uterus didelphys, Hypocalcemia, Aplasia of the uterus, Rod-con...	ORPHA:2237
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Absent pubic...	ORPHA:90793
Immunodeficiency 40	T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombocytopenia	OMIM:616433
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Highly arched eyebrow, Trichiasis, Renal hypoplasia, Renal cyst, Pigmentary...	OMIM:618460
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Nail dysplasia, Coarse hair, Bruising susceptibility, Thrombocytopenia	OMIM:612394
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Complex Regional Pain Syndrome	Abnormality of hair growth, Slow-growing nails, Allodynia	ORPHA:83452
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptor...	ORPHA:398069
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Optic atrophy, Neph...	ORPHA:2785
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Nephrocalcinosis, Persistence of hemoglob...	OMIM:260400
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Increased mean corpuscular ...	ORPHA:261250
Avian Influenza	Leukopenia, Acute kidney injury, Lymphopenia, Thrombocytopenia	ORPHA:454836
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Abetalipoproteinemia	Abnormal bleeding, Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Rod-cone...	ORPHA:14
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism	OMIM:300510
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Elevated circulating C-reactive protein concentration, Leukopenia,...	OMIM:615934
Nail-Patella Syndrome	Keratoconus, Ridged nail, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia...	OMIM:161200
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy, Absent pubic hair	OMIM:612964
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Diamond-Blackfan Anemia	Acute myeloid leukemia, Renal agenesis, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia,...	ORPHA:124
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Satoyoshi Syndrome	Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia of the...	ORPHA:3130
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Reduced circulating prolactin concentrati...	ORPHA:2235
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression	OMIM:600740
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Hypoplastic nipples, Small nail, Nail dystrophy, Periorbital hyperpigmentation, Thrombocy...	ORPHA:261323
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Lysinuric Protein Intolerance	Abnormal bleeding, Proteinuria, Glomerulonephritis, Ornithinuria, Thrombocytopenia, Argininuria, ...	ORPHA:470
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Intermittent thrombocytopenia, Erythroid hypoplasia, Urachus ...	OMIM:612541
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Yellow Fever	Abnormal bleeding, Renal insufficiency, Anuria, Neutrophilia, Excessive bleeding after a venipunc...	ORPHA:99829
Dubowitz Syndrome	Sparse scalp hair, Hypospadias, Abnormal fingernail morphology, Abnormality of neutrophils, Hypop...	ORPHA:235
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Cognitive impairment, Lymphopenia, Anemia	ORPHA:935
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal hair morphology, ...	ORPHA:647
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia, Petechiae, Purpura	OMIM:225750
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Shigellosis	Hemolytic-uremic syndrome, Leukocytosis, Urethritis, Microangiopathic hemolytic anemia, Splenic a...	ORPHA:810
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Hemoglobinuria, Microangiopathic hemolytic...	ORPHA:90038
Overlap Myositis	Leukopenia, Abnormality of the kidney, Thrombocytopenia	ORPHA:206572
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Chorior...	ORPHA:2526
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Thrombocytopenia-Absent Radius Syndrome	Axial malrotation of the kidney, Thrombocytopenia, Abnormality of the kidney, Horseshoe kidney	ORPHA:3320
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Broad eyebrow, Sacral hypertrichosis, Thrombocytopenia	ORPHA:457351
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op...	ORPHA:649
Pediatric-Onset Graves Disease	Splenomegaly, Increased circulating free T3, Neutropenia in presence of anti-neutropil antibodies...	ORPHA:525731
Congenital Disorder Of Glycosylation, Type Ia	Proteinuria, Rod-cone dystrophy, Renal cyst, Nephrotic syndrome, Prolonged prothrombin time, Prox...	OMIM:212065
Dent Disease 1	Hypophosphatemia, Glycosuria	OMIM:300009
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Prolonged prothrombin time, Extramedullary hematopoiesis, Renal cyst	ORPHA:79303
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormalit...	ORPHA:36426
Sympathetic Ophthalmia	Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin...	ORPHA:79098
Jacobsen Syndrome	Hypospadias, Abnormal eyelash morphology, Optic atrophy, Macular hypoplasia, Chorioretinal colobo...	OMIM:147791
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Satoyoshi Syndrome	Hypoplasia of the uterus, Alopecia, Mildly elevated creatine kinase, Alopecia universalis	OMIM:600705
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypop...	OMIM:614841
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy, A...	ORPHA:90321
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Alopecia, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, ...	OMIM:212750
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Gaucher Disease	Abnormal bleeding, Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, Abnormal macular mo...	ORPHA:355
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocyt...	ORPHA:537
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Prolonged prothrombin time...	OMIM:613070
Sialuria	Memory impairment, Prolonged prothrombin time, Attention deficit hyperactivity disorder	ORPHA:3166
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia, Hyperpigmentation of the skin	ORPHA:293173
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Increased circulatin...	ORPHA:36234
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit...	ORPHA:90362
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Decreased ...	ORPHA:289390
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent...	OMIM:620185
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Cockayne Syndrome	Abnormality of retinal pigmentation, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar...	ORPHA:191
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Melas	Proteinuria, Optic atrophy, Hypertrichosis, Focal segmental glomerulosclerosis, Pigmentary retino...	ORPHA:550
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia	OMIM:617591
Estrogen Resistance Syndrome	Abnormality of the pubic hair, Enlarged polycystic ovaries, Hyperinsulinemia, Hypoplasia of the u...	ORPHA:785
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Lathosterolosis	Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Horseshoe kidney, Thrombo...	ORPHA:46059
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Hypoplastic toenails, Me...	ORPHA:904
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia, Hypoglycemic seizures	OMIM:609734
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture, Splenomegaly, Hypocalcemia, Hypophosphatemia, Optic nerve compressio...	ORPHA:667
Prader-Willi Syndrome	Hypopigmentation of hair, Diabetes mellitus, Small scrotum, External genital hypoplasia, Precocio...	ORPHA:739
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased testicular size, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive az...	ORPHA:432
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro...	ORPHA:157850
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Decreased circulating carnitine con...	ORPHA:3337
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl...	OMIM:613154
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Melena, Nephrocalcinosis, Prolong...	OMIM:276700
Cushing Disease	Sparse scalp hair, Diabetes mellitus, Impaired glucose tolerance, Optic nerve compression, Leukoc...	ORPHA:96253
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo...	ORPHA:84
Crimean-Congo Hemorrhagic Fever	Leukopenia, Increased circulating IgG level, Ecchymosis, Internal hemorrhage, Neutrophilia, Leuko...	ORPHA:99827
Proteus Syndrome	Central heterochromia, Abnormality of skin pigmentation, Chorioretinal coloboma, Generalized hirs...	ORPHA:744
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Hyponatremia, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal e...	ORPHA:90794
Wilson Disease	Hemolytic anemia, Hyperphosphaturia, Proteinuria, Thrombocytopenia, Splenomegaly, Nephrolithiasis...	OMIM:277900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytosis, Thromboc...	OMIM:617718
Farber Disease	Hepatosplenomegaly, Anemia, Macular degeneration, Cherry red spot of the macula, Thrombocytopenia	ORPHA:333
Cowden Syndrome 1	Cataract, Angioid streaks of the fundus, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymph...	OMIM:158350
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Gaucher Disease, Perinatal Lethal	Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Purpura	OMIM:608013
Gaucher Disease Type 3	Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating antibody level,...	ORPHA:77261
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-...	OMIM:617099
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Short attention span, Diabetes mellitus, Hypercalcemia, Retinal ar...	OMIM:194050
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Sparse eyebrow, Decreased circulating antibody level, Mucopo...	ORPHA:175
Classic Homocystinuria	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Retinal detachment, Sparse scal...	ORPHA:394
Caroli Syndrome	Abnormal bleeding, Abnormality of the kidney, Hematemesis, Hypersplenism, Leukocytosis, Melena, L...	ORPHA:480520
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl...	ORPHA:276
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Penoscrotal hypospadias, Patent urachus, Micropenis, E...	OMIM:618280
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype...	ORPHA:79102
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair	OMIM:612582
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Prolonged prothrombin time, Abnormality of hair texture	ORPHA:88618
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ...	ORPHA:391487
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Retinal pigment epithelial mottling, Multiple ren...	OMIM:618733
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Insulin-resistant diabetes mellitus, Hy...	ORPHA:3464
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia	OMIM:104200
Woodhouse-Sakati Syndrome	Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypop...	OMIM:241080
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Myoglobinuria	OMIM:609015
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Leptospirosis	Papilledema, Cellular urinary casts, Retinal hemorrhage, Subconjunctival hemorrhage, Chorioretini...	ORPHA:509
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Down Syndrome	Brushfield spots, Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Marburg Hemorrhagic Fever	Abnormal bleeding, Reticulocytosis, Renal insufficiency, Lymphopenia, Excessive bleeding after a ...	ORPHA:99826
Q Fever	Splenomegaly, Hepatosplenomegaly, Hematuria, Anemia, Increased circulating antibody level, Thromb...	ORPHA:781
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Highly arched eyebrow, Sp...	ORPHA:487796
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Generalized aminoaciduria, Thrombocytopenia	OMIM:251880
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Thrombocytopenia, Re...	OMIM:620005
Wars2-Related Combined Oxidative Phosphorylation Defect	Rod-cone dystrophy, Thrombocytopenia	ORPHA:572798
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Leukocytosis, Leukopenia, Prolonged prothrombin time, 3-Methylglutaric aciduria, Throm...	ORPHA:20
Raine Syndrome	Neonatal death, Highly arched eyebrow, Hypophosphatemia	OMIM:259775
Coffin-Lowry Syndrome	Hyperconvex fingernails, Abnormality of retinal pigmentation, Optic atrophy, Hypoplastic fingernail	ORPHA:192
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Hyperspleni...	ORPHA:731
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Pigmentary retinopathy, Optic atrophy, Optic disc pallor	OMIM:617282
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Highly arched eyebrow, Long eyelashes, Micropenis, Thrombocyt...	OMIM:619005
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Hypoplasia of t...	OMIM:619321
Fusariosis	Brain abscess, Lung abscess, Abnormal retinal morphology, Keratitis, Abnormality of the spleen, P...	ORPHA:228119
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Trigeminal Neuralgia	Allodynia, Depression	ORPHA:221091
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Trisomy 8P	Cryptorchidism, Low posterior hairline, Astigmatism, Micropenis, Heterochromia iridis	ORPHA:264450
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Precocio...	OMIM:202010
Atypical Werner Syndrome	Abnormal hair quantity, Renal neoplasm, Abnormality of retinal pigmentation, Alopecia, Abnormal h...	ORPHA:79474
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Thick hair, Optic disc pallor	ORPHA:502423
Mucopolysaccharidosis Type 3	Thick hair, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Optic atrophy, Hirsutism...	ORPHA:581
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Thrombocytopenia, Intracranial hemorrhage, Micropenis, Hydronephrosis, Anemia, Aplas...	ORPHA:163979
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Hypoplasia of the ute...	OMIM:618419
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Thick hair	OMIM:617675
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Eosinophilia, Thrombocytopenia, Leukocytosis, Prolonged ...	OMIM:274000
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hematemesis, Thrombocytopenia, Splenomegaly, Hematochezia, Nephro...	OMIM:615846
Cockayne Syndrome B	Renal insufficiency, Dry hair, Proteinuria, Abnormal hair morphology, Splenomegaly, Optic atrophy...	OMIM:133540
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria	OMIM:229600
Trisomy 18	Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Hydronephrosis, Abno...	ORPHA:3380
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Abnormality of the kidney, Hyperautof...	OMIM:209900
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Hypospadias, Maturity-onset diabetes of the young,...	OMIM:137920
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Cognitive impairment, Hypoplasia of the ovary	OMIM:615300
Dent Disease	Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria	ORPHA:1652
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Cockayne Syndrome A	Renal insufficiency, Retinal atrophy, Proteinuria, Dry hair, Retinal pigment epithelial mottling,...	OMIM:216400
Tangier Disease	Thrombocytopenia, Nail dystrophy, Anemia, Hepatosplenomegaly	ORPHA:31150
Brucellosis	Glomerulonephritis, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Intrarenal absce...	ORPHA:1304
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Splenomegaly, Optic atrophy, Generalized aminoaciduri...	ORPHA:404454
Monosomy 13Q34	Epistaxis, Fetal pyelectasis, Hematochezia, Prolonged prothrombin time, Horizontal eyebrow	ORPHA:96168
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Anuria, Leukocytosis, Oliguria, Acute kidney injury, Nephrotic range proteinuri...	ORPHA:544482
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope...	OMIM:619525
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time	OMIM:618641
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Liver Disease, Severe Congenital	Dry hair, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Hyponatre...	OMIM:619991
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Optic a...	OMIM:618329
Classical Ehlers-Danlos Syndrome	Ecchymosis, Bladder diverticulum, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia, Attention deficit hyperactivit...	OMIM:617914
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytopenia, Persistenc...	OMIM:105650
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Urinary incontinence, Acanthocytosis, Optic atrophy, Pigmentary re...	OMIM:234200
Aicardi Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,...	OMIM:309801
Fanconi Anemia, Complementation Group L	Aplasia of the uterus, Attention deficit hyperactivity disorder, Micropenis, Cafe-au-lait spot, A...	OMIM:614083
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti...	ORPHA:90062
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Hypospadias, Chorioretinal dyspla...	ORPHA:2556
Whim Syndrome	Abnormal neutrophil morphology, Neutropenia, Cervix cancer, Lymphopenia, Vitiligo	ORPHA:51636
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism,...	ORPHA:90796
Fibular Hemimelia	Renal dysplasia, Thrombocytopenia	ORPHA:93323
Proteasome-Associated Autoinflammatory Syndrome 1	Hyperpigmentation of the skin, Sparse axillary hair, Microcytic anemia, Increased circulating IgA...	OMIM:256040
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Limb-Mammary Syndrome	Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Bilateral breast hypo...	ORPHA:69085
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Hypospadias, Abnormality of hair texture, Cryptorchidism	ORPHA:96169
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypospadias, Abnormality of thrombocytes, Impaired T cell function, ...	ORPHA:567
Jacobsen Syndrome	Multicystic kidney dysplasia, Hydronephrosis, Aplasia/Hypoplasia of the eyebrow, Bone marrow hypo...	ORPHA:2308
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy	OMIM:260920
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus	OMIM:146255
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Splenomegaly, Prolonged prothrombin time	OMIM:613812
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Sparse scalp hair, Highly arched eyebrow, Hypoplastic fifth fingernail, Hypoplasia of the uterus,...	OMIM:615866
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Deeah Syndrome	Decreased hemoglobin concentration, Low posterior hairline, Decreased circulating free T4 concent...	OMIM:619004
Sarcoidosis	Hemolytic anemia, Renal insufficiency, Alopecia, Eosinophilia, Thrombocytopenia, Increased T cell...	ORPHA:797
Hyperparathyroidism-Jaw Tumor Syndrome	Uterine leiomyoma, Hypercalcemia, Testicular neoplasm, Hypophosphatemia	ORPHA:99880
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Tubulointerstitial nephritis, ...	ORPHA:79078
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Chorioretinal atrophy, Stage ...	OMIM:118450
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Parathyroid Carcinoma	Uterine leiomyoma, Hypercalcemia, Testicular neoplasm, Hypophosphatemia	ORPHA:143
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Kikuchi-Fujimoto Disease	Alopecia, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukopenia...	ORPHA:50918
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration	OMIM:612852
Chromosome 17Q12 Deletion Syndrome	Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of...	OMIM:614527
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Optic atrophy, Lacticaciduria, Pigmentary retinopathy, Rod-cone dystro...	ORPHA:255210
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Micropenis	OMIM:614230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Int...	ORPHA:3260
Degcags Syndrome	Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Le...	OMIM:619488
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Splenomegal...	ORPHA:217085
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Splenomegal...	ORPHA:217093
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	OMIM:249100
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Throm...	ORPHA:297
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the splee...	ORPHA:1606
Roberts Syndrome	Sparse hair, Thrombocytopenia, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Increased urinary glycerol, Ketonuria, Hepatosple...	ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyp...	ORPHA:77293
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Papilledema, Abnormality of the spleen, Thrombocy...	ORPHA:2072
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Urinary incontinence	ORPHA:466768
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Prolonged prothrombin time, Hydronephrosis	OMIM:614921
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Splenomegaly, Optic...	ORPHA:580
Noonan Syndrome 1	Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadia...	OMIM:163950
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Hypoplasia of penis, Hypospadias, Sclerocornea, Abnormal eyel...	ORPHA:818
Ogden Syndrome	Global glomerulosclerosis, Sparse eyebrow, Fine hair, Iron deficiency anemia, Long eyelashes, Pol...	OMIM:300855
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Aminoaciduria	OMIM:619055
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia, Antecubital pterygium	OMIM:616258
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Isolated Biliary Atresia	Splenomegaly, Prolonged prothrombin time, Dark yellow urine	ORPHA:30391
Ramon Syndrome	Pigmentary retinopathy, Optic disc pallor, Hypertrichosis	OMIM:266270
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid uterus, Sparse eyebrow, Abnormal repr...	ORPHA:1521
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Dementia, Allodynia	OMIM:603041
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Hypoplasia of the uterus, Highly arched eyebrow, Sparse pubic hair	OMIM:110100
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Neonatal deat...	OMIM:601186
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Renal cyst	OMIM:272460
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Hirsutism, Emotio...	ORPHA:99889
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Wolf-Hirschhorn Syndrome	Accessory spleen, Rieger anomaly, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptor...	OMIM:194190
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Prolonged prothrombin time, Polycythemia	ORPHA:309854
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Oroticaciduria	OMIM:311250
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair, Shawl scrotum	ORPHA:1974
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Digeorge Syndrome	Renal insufficiency, Impaired T cell function, Unilateral renal agenesis, Decreased circulating p...	OMIM:188400
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Clitoral hypertrophy, Hypospadias, Hypoplastic fifth fingernail, Cry...	OMIM:135900
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Primary Sclerosing Cholangitis	Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal...	ORPHA:171
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair, Hypoglycemia	ORPHA:565
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Osteogenesis Imperfecta	Cerebral hemorrhage, Hypercalciuria, Nephrolithiasis, Bruising susceptibility, Thrombocytopenia	ORPHA:666
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Okamoto Syndrome	Bifid uterus, Splenomegaly, Extension of hair growth on temples to lateral eyebrow, Astigmatism, ...	ORPHA:2729
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Hyponatremia, Small scrotum, Hypoglycemia, Hypospadias, Crypto...	OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse...	OMIM:130050
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Recurrent urinary tract infections, Hypospadias, Optic disc hypoplasia, Synoph...	ORPHA:3455
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus, Nail dysplasia	ORPHA:2879
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Aicardi-Goutières Syndrome	Micropenis, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly	ORPHA:51
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cry...	ORPHA:286
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Pigmentary retinopathy, Sparse scalp hair, Polyuria	OMIM:606721
Neu-Laxova Syndrome 1	Cataract, Bifid uterus, Absent eyelashes, Cryptorchidism, Stillbirth, Neonatal death, Pterygium	OMIM:256520
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Stillbirth, Abnormal vagina morphology	OMIM:236680
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353277
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Cataract, Sparse eyelashes, Hypospadias, Supernumerary nipple, Small...	OMIM:601803
Peters Plus Syndrome	Cataract, Corneal opacity, Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Hypoplasia of...	ORPHA:709
Benign Schwannoma	Allodynia	ORPHA:252164
Peters-Plus Syndrome	Hypoplasia of the vagina, Cataract, Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Hypopl...	OMIM:261540
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ...	OMIM:276820
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Highly arched eyebrow, Polycystic ovaries, Hypoplas...	ORPHA:572333
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term developmental dysplasia	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dtnbp1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mice with dopaminergic neuron-specific deletion of DTNBP-1 gene show blunted nucleus accumbens dopamine release and associated behaviors.	Neuropharmacology (December 2020)	Dtnbp1^{tm1c(EUCOMM)Hmgu}	33340529
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.	Scientific reports (August 2019)	Dtnbp1^{tm1a(EUCOMM)Hmgu}	PMC6672016
BDNF rescues prefrontal dysfunction elicited by pyramidal neuron-specific DTNBP1 deletion in vivo.	Journal of molecular cell biology (April 2017)	Dtnbp1^{tm1c(EUCOMM)Hmgu} Dtnbp1^{tm1a(EUCOMM)Hmgu}	PMC6080364

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dtnbp1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dtnbp1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Dtnbp1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Dtnbp1 MGI:2137586

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Combined SHIRPA and Dysmorphology

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

X-ray

X-ray

Histopathology

Eye Morphology

Human diseases caused by Dtnbp1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data