Gene Summary

Name:
zinc finger protein 462
Synonyms:
Zfpip,  Gt4-2,  9430078C22Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Zfp462em1(IMPC)Tcp HET Early adult 1.14×10-10
thrombocytopenia Zfp462em1(IMPC)Tcp HET Early adult 5.71×10-08
edema Zfp462em1(IMPC)Tcp HOM E15.5 0.00
increased startle reflex Zfp462em1(IMPC)Tcp HET Early adult 1.24×10-07
increased total body fat amount Zfp462em1(IMPC)Tcp HET Early adult 1.55×10-06
impaired glucose tolerance Zfp462em1(IMPC)Tcp HET Early adult 3.40×10-05
abnormal embryo size Zfp462em1(IMPC)Tcp HOM E15.5 0.00
preweaning lethality, complete penetrance Zfp462em1(IMPC)Tcp HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Slit Lamp

96 Images

Eye Morphology

Images Ophthalmoscopy

96 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Zfp462 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.

The table below shows human diseases associated to Zfp462 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Zfp462 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipedema
Edema OMIM:614103
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
L-Ferritin Deficiency
Restless legs, Alopecia OMIM:615604
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Thumb Deformity And Alopecia
Short stature, Alopecia OMIM:188150
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Moynahan Syndrome
Short stature, Cachexia, Sparse hair, Alopecia ORPHA:2574
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Trichotillomania
Compulsive behaviors, Hair-pulling, Alopecia OMIM:613229
Oliver-Mcfarlane Syndrome
Delayed puberty, Long eyebrows, Long eyelashes, Severe short stature, Sparse hair, Small for gest... OMIM:275400
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Severe short stature, Alopecia totalis OMIM:302000
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Pseudoprogeria Syndrome
Absent eyelashes, Decreased body weight, Absent eyebrow, Growth delay, Failure to thrive, Sparse ... ORPHA:2985
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Candidiasis, Familial, 1
Alopecia OMIM:114580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Nail dystrophy, Ridged nail, Alopecia OMIM:601705
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Growth delay, Sparse hair, Small for gestational age, Alopecia ORPHA:3363
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, S... OMIM:129500
Kerion Celsi
Alopecia ORPHA:499
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Severe short stature, Ridged fingernail, Sparse hair, Fingernail dy... ORPHA:2251
Cortisone Reductase Deficiency 1
Obesity, Hirsutism, Alopecia OMIM:604931
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Short stature, Sparse eyebrow, Fin... ORPHA:1882
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati... ORPHA:494444
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,... ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoies... OMIM:615285
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Short stature, Generalized hirsutism, Weight l... ORPHA:317
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of the eyebr... ORPHA:2850
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge... ORPHA:2325
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Severe short stature, Alopecia OMIM:203550
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Athetosis, Failure to thrive, Thrombocytopenia, Leukopeni... OMIM:229050
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Congenital onyc... ORPHA:2890
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Short stature, Failure to thrive, Intrauterine growth retardation, Alopecia ORPHA:50812
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia OMIM:619302
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Dystonia, Hepatosplenomegaly OMIM:610329
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Alopecia ORPHA:337
Pseudopelade Of Brocq
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:129
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Porphyria Cutanea Tarda
Onycholysis, Facial hypertrichosis, Alopecia OMIM:176100
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Delayed puberty, Sparse eyelashes, Growth delay, Sparse eyebrow, Alopecia OMIM:615704
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Short stature, Obesity, Ab... ORPHA:3077
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Cronkhite-Canada Syndrome
Anorexia, Hypoplastic toenails, Dystrophic fingernails, Cachexia, Dystrophic toenail, Patchy alop... ORPHA:2930
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Neutropenia OMIM:598500
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Congenital Ichthyosiform Erythroderma
Abnormality of the nail, Failure to thrive, Short stature, Alopecia ORPHA:79394
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Trachyonychia, Nail pits, Alopecia totalis ORPHA:700
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
White Sponge Nevus 2
Edema OMIM:615785
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Self-injurious behavior, Abnormal toenail morphology, Alopecia ORPHA:494
Holocarboxylase Synthetase Deficiency
Anorexia, Irritability, Growth delay, Weight loss, Alopecia ORPHA:79242
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Failure to thrive, Sparse hair, Intrauterine growth retardation, Alopecia OMIM:616353
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Thrombocytopenia ORPHA:141184
Flynn-Aird Syndrome
Alopecia of scalp, Alopecia OMIM:136300
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Cellulitis, Neutropenia ORPHA:238459
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelia, Severe failure to thrive, Severe short stature, Alopecia OMIM:215100
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis OMIM:212360
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Alopecia ORPHA:79397
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Depression, Increased body weight, Hirsutism, Alopecia OMIM:615830
Immunodeficiency 46
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Growth delay, Short stature, Sparse body hair, Alopecia ORPHA:177
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Nicolaides-Baraitser Syndrome
Curly eyelashes, Highly arched eyebrow, Long eyelashes, Abnormal hair pattern, Severe short statu... ORPHA:3051
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Acrodermatitis Enteropathica
Anorexia, Ridged nail, Abnormality of the nail, Emotional lability, Short stature, Failure to thr... ORPHA:37
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Failure to thrive, Dystonia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Neutropenia ORPHA:79312
Alpha-Heavy Chain Disease
Growth delay, Alopecia ORPHA:100025
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Atrichia, Short stature, Growth delay, Congenital abnormal hair pattern, Alopecia ORPHA:1867
Malaria
Thrombocytopenia, Anemia ORPHA:673
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Renpenning Syndrome
Cachexia, Growth delay, Severe short stature, Thin eyebrow, Abnormal hairshaft morphology, Alopecia ORPHA:3242
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Alopecia-Intellectual Disability Syndrome 4
Agitation, Alopecia OMIM:618840
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Aicardi-Goutieres Syndrome 4
Pancytopenia, Dystonia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Failure to thrive, Thrombocytopenia OMIM:614727
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Dystonia, Thrombocytopenia, Choreoathetosis, Neutropenia ORPHA:289916
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia ORPHA:49827
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Aggressive behavior OMIM:247100
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia OMIM:616435
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Alo... OMIM:612843
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Failure to thrive, Severe short stature, Sparse hair, Alopecia ORPHA:2316
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Failure to thrive, Thrombocytopenia, Cellulitis, Abnormal... ORPHA:229717
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Short stature, Intrauterine growth retardation, Coarse hair, Alopecia ORPHA:75389
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Alopecia of scalp, Absent pubic hair, Sparse eyebrow, Absent axillary hair, Congenital alopecia t... ORPHA:2269
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Failure to thrive, Type I diabetes mellitus, Thr... OMIM:304790
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Satoyoshi Syndrome
Short stature, Alopecia universalis, Alopecia OMIM:600705
Menkes Disease
Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation, Alopecia OMIM:309400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Short stature, Failure to thrive, Fragile nails, Sparse hair, Alopecia OMIM:242150
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab... OMIM:607823
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Depression, Short stature, Self-injurious behavior, Alopecia OMIM:601853
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Short stature, Alopecia OMIM:612079
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia OMIM:249270
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis ORPHA:701
Lymphatic Malformation 10
Lymphedema OMIM:619369
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Camptodactyly OMIM:619751
Abnormal Hair, Joint Laxity, And Developmental Delay
Trichorrhexis nodosa, Aggressive behavior, Small nail, Impulsivity, Sparse lateral eyebrow, Fragi... OMIM:261990
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Alopecia ORPHA:69735
Gaucher Disease, Type Iii
Thrombocytopenia, Decreased body weight, Splenomegaly, Pancytopenia OMIM:231000
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Immunodeficiency 32B
Anemia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomegaly, Monocytope... OMIM:226990
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia OMIM:614564
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Failure to thrive, Thrombocytopenia, Lipodystrophy, Decreased proportion of me... OMIM:618048
Dyskeratosis Congenita, Digenic
Nail dystrophy, Sparse eyelashes, Failure to thrive, Short stature, Dysphagia, Intrauterine growt... OMIM:620040
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Short stature, Alopecia ORPHA:88630
Specific Granule Deficiency 2
Amelogenesis imperfecta, Anemia, Failure to thrive, Thrombocytopenia, Absent neutrophil specific ... OMIM:617475
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Failure to thrive, Thrombocytopenia, Leukopenia OMIM:619151
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Macrocytic anemia, Thrombocytopenia, Leukopenia, Choreoathetosis ORPHA:27
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Patchy alopecia, Fragile nails OMIM:226650
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive, Thrombocytopenia, Umbi... OMIM:169400
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia OMIM:242300
Propionic Acidemia
Anemia, Pancytopenia, Failure to thrive, Dystonia, Thrombocytopenia, Hypoglycemia, Neutropenia OMIM:606054
Primary Myelofibrosis
Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Poikilocytosis, Hepatosplenomegaly,... ORPHA:824
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Congenital Toxoplasmosis
Failure to thrive in infancy, Thrombocytopenia, Anemia ORPHA:858
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Weight loss, Thro... ORPHA:507
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Reduced natural killer c... OMIM:616050
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Diabetic ketoacidosis, Fasting hypoglycemia, Inc... ORPHA:2298
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Aggressive behavior, Small nail, Absent eyelashes, Sparse scalp hair, ... ORPHA:544488
Hypomelanosis Of Ito
Alopecia OMIM:300337
Kury-Isidor Syndrome
Attention deficit hyperactivity disorder, Growth delay, Hypertrichosis, Alopecia OMIM:619762
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Mody
Large for gestational age, Neonatal hypoglycemia, Glucose intolerance, Hypoinsulinemia, Glycosuri... ORPHA:552
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Tremor, Athetosis, Dystonia, Thrombocytopenia, Hypoglycemia OMIM:617710
Hereditary Mucoepithelial Dysplasia
Fine hair, Sparse hair, Alopecia ORPHA:1839
Stiff-Person Syndrome
Diabetes mellitus, Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Classic Mycosis Fungoides
Abnormality of the nail, Alopecia ORPHA:2584
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Pachyonychia Congenita
Nail dystrophy, Onychogryposis of toenails, Onychogryposis of fingernail, Failure to thrive, Fing... ORPHA:2309
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Nail dystrophy, Woolly hair, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Alopecia OMIM:605676
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Leukopenia, Diabetes mellitus OMIM:613845
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu... ORPHA:251393
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Anorexia, Nail dystrophy, Cachexia, Alopecia OMIM:175500
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... OMIM:301078
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Patchy alopecia, Aggressive behavior ORPHA:85279
Wolfram Syndrome 1
Megaloblastic anemia, Tremor, Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus OMIM:222300
Flynn-Aird Syndrome
Cachexia, Alopecia ORPHA:2047
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture OMIM:612952
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-... OMIM:613011
X-Linked Agammaglobulinemia
Short stature, Failure to thrive, Weight loss, Alopecia ORPHA:47
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Depression, Short stature, Failure to thrive, Weig... OMIM:212750
Congenital Rubella Syndrome
Thrombocytopenia, Type I diabetes mellitus, Anemia, Splenomegaly ORPHA:290
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Type I diabetes mellitus, Anemia, Lymphopenia OMIM:620365
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal toenail morphology, Severe short stature, Sparse hair, Intrauterine growth retardation, ... ORPHA:1005
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... OMIM:308240
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Short stature ORPHA:309246
Babesiosis
Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Thrombocytopenia, Absent circulating B cells OMIM:619693
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Failure to thrive, Thrombocytopenia, Umbilical hernia, Neutrop... OMIM:614520
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Synophrys, Spa... ORPHA:3253
Ichthyosis, Congenital, Autosomal Recessive 2
Thin nail, Abnormal hair morphology, Small nail, Growth delay, Alopecia OMIM:242100
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... ORPHA:158057
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Lichen Planopilaris
Onycholysis, Abnormal fingernail morphology, Alopecia ORPHA:525
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Bresek Syndrome
Intrauterine growth retardation, Growth delay, Alopecia ORPHA:85284
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Flexion contracture, Splenomegaly, Art... ORPHA:85212
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Vestibular areflexia, Head titubation ORPHA:3240
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Beta-Thalassemia
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Pancytopenia OMIM:243500
Lig4 Syndrome
Pancytopenia, Failure to thrive, Acute lymphoblastic leukemia, Thrombocytopenia, Type II diabetes... OMIM:606593
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Bathing Suit Ichthyosis
Nail dystrophy, Sparse hair, Alopecia ORPHA:100976
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Panniculitis, Failure to thrive, Thrombocytopenia, Splenomegaly, Lipodystrophy, Lymphopen... OMIM:617591
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Monosomy 18P
Short stature, Low posterior hairline, Alopecia ORPHA:1598
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia OMIM:150550
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Preeclampsia
Type I diabetes mellitus, Thrombocytopenia, Small for gestational age ORPHA:275555
Atelis Syndrome 1
Thrombocytopenia, Leukopenia, Anemia OMIM:620184
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Tremor, Dystonia, Thrombocytopenia, Leukopenia, Opisthotonus, Flexion cont... OMIM:616271
Rhabdoid Tumor
Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Truncal obesity, Alopecia ORPHA:3224
Keutel Syndrome
Short stature, Alopecia ORPHA:85202
Osteopetrosis, Autosomal Recessive 4
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis OMIM:611490
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Growth delay, Dysphagia, Alopecia OMIM:226600
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Normochromic anemia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:614857
Hutchinson-Gilford Progeria Syndrome
Growth delay, Alopecia OMIM:176670
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Short stature, Alopecia OMIM:620651
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Fine hair, Alopecia ORPHA:228390
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Short Syndrome
Weight loss, Severe short stature, Sparse hair, Alopecia ORPHA:3163
Johanson-Blizzard Syndrome
Short stature, Failure to thrive, Abnormal hair pattern, Intrauterine growth retardation, Alopecia ORPHA:2315
Smith-Kingsmore Syndrome
Large for gestational age, Hypoglycemia, Thrombocytopenia, Umbilical hernia OMIM:616638
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia ORPHA:453533
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Emotional lability, Increased body weight, Hirsutism, Abdominal obesity, Mania, Alopecia ORPHA:189427
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... OMIM:601399
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Absent eyelashes, Absent eyebrow, Short stature, Intrauterine growth retardation, Alo... ORPHA:166035
Macs Syndrome
Decreased body weight, Short stature, Sparse eyebrow, Sparse hair, Alopecia OMIM:613075
Alg8-Cdg
Anemia, Camptodactyly, Failure to thrive, Thrombocytopenia, Small for gestational age, Abnormalit... ORPHA:79325
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Sparse hair, Subungual hyperkeratosis, Alopecia universalis OMIM:614594
Mandibuloacral Dysplasia
Postnatal growth retardation, Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Pseudo-Torch Syndrome 1
Failure to thrive, Dystonia, Thrombocytopenia, Splenomegaly, Umbilical hernia OMIM:251290
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Congenital Disorder Of Glycosylation, Type Im
Sparse eyelashes, Failure to thrive, Sparse eyebrow, Alopecia OMIM:610768
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Omenn Syndrome
Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Thrombocytopenia, Leukopenia, Hypoglycemia, Neutropenia OMIM:251000
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Alopecia universalis, Failure to thrive, Irritability OMIM:277440
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Dysphagia, Alopecia ORPHA:412057
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Cog4-Cdg
Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hypoplastic fingernail, Hyperconvex fingernails ORPHA:257
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... ORPHA:100026
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Thrombocytopenia, Anemia, Camptodactyly OMIM:608104
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Eosinophilia ORPHA:90045
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Alopecia universalis, Absent fingernail, Anonychia OMIM:609638
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Weight loss, Cellulitis, ... ORPHA:47612
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Low frustration tolerance, Decreased body weight, Patchy alopecia, Short stature, ... OMIM:300534
Satoyoshi Syndrome
Short stature, Alopecia universalis, Sparse or absent eyelashes, Abnormal hair morphology ORPHA:3130
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Hypoglycemia, Neutropenia OMIM:251110
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Failure to thrive, Severe B lymphocytopenia,... OMIM:603554
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Adams-Oliver Syndrome
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Failure to thrive, Spars... ORPHA:974
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Leukocytosis, Thrombocytopenia, Hyperglycemia, Small for gestationa... ORPHA:391673
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Nail dystrophy, Alopecia OMIM:618373
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Alopecia OMIM:616367
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Thick hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia OMIM:607626
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Premature graying of hair, Nail dystrophy, Short stature, Growth delay, Intrauter... OMIM:613990
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Nail dystrophy, Absent eyelashes, Sparse scalp hair, Absent eyebrow, S... OMIM:268400
Nestor-Guillermo Progeria Syndrome
Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Short sta... OMIM:614008
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Low posterior hairline, Short stature, Small for gestational age, Alopecia ORPHA:2959
Transaldolase Deficiency
Anemia, Pancytopenia, Failure to thrive, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Smal... OMIM:606003
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Adrenoleukodystrophy
Attention deficit hyperactivity disorder, Alopecia OMIM:300100
Tularemia
Thrombocytopenia, Anemia, Leukocytosis ORPHA:3392
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis OMIM:274150
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Tremor, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:251100
Immunodeficiency 22
Panniculitis, Anemia, Failure to thrive, Decreased proportion of CD4-positive helper T cells, Thr... OMIM:615758
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Anemia, Leukocytosis, Weight loss ORPHA:90060
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Alopecia OMIM:137940
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormality of the nail, Severe postnatal growth retardation, Patchy ... ORPHA:35173
Gapo Syndrome
Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Early balding, Alopecia ORPHA:2067
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Weight loss, Neutropenia ORPHA:520
Overlap Myositis
Thrombocytopenia, Diabetes mellitus, Leukopenia, Abnormality of connective tissue ORPHA:206572
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:616881
Wilson Disease
Anemia, Increased body weight, Failure to thrive, Thrombocytopenia, Splenomegaly, Weight loss ORPHA:905
Ane Syndrome
Delayed puberty, Short stature, Alopecia ORPHA:157954
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Alopecia, Sparse hair, Brittle hair OMIM:608612
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Alopecia ORPHA:169154
Sézary Syndrome
Nail dystrophy, Alopecia ORPHA:3162
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Sparse hair, Alopecia ORPHA:659
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Small for gestational age, Intrauterine growth retardation OMIM:618775
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Tremor, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal acti... OMIM:214500
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia ORPHA:169105
Prolidase Deficiency
Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Alopecia of scalp, Growth delay, Abnormal eyebrow morphology,... ORPHA:2232
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Enamel hypoplasia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:614576
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Sparse hair, Coarse hair, Alopecia OMIM:158310
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Incontinentia Pigmenti
Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Dystrophic toenail, Br... ORPHA:464
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Intrauterine gr... ORPHA:158687
Giant Cell Arteritis
Anorexia, Depression, Weight loss, Alopecia ORPHA:397
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Relapsing Fever
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Braddock-Carey Syndrome 1
Enamel hypoplasia, Thrombocytopenia, Camptodactyly OMIM:619980
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia, Umbilical hernia OMIM:620475
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Mirage Syndrome
Anemia, Decreased body weight, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia, Hyp... OMIM:617053
Cyclic Neutropenia
Lymphopenia, Thrombocytopenia, Decreased eosinophil count, Cellulitis, Cyclic neutropenia ORPHA:2686
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Holocarboxylase Synthetase Deficiency
Irritability, Alopecia OMIM:253270
Bartsocas-Papas Syndrome
Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hypoplastic toen... ORPHA:1234
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia OMIM:618282
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Failure to thrive, Side... OMIM:557000
Leigh Syndrome
Frontal hirsutism, Failure to thrive, Growth delay, Dysphagia, Intrauterine growth retardation, H... ORPHA:506
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Failure to thrive, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613989
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Hirsutism, Obesity, Abdominal obesity OMIM:219090
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Nail dystrophy, Abnormal hair morphology, Short stature, Alopecia ORPHA:90154
Cholesteryl Ester Storage Disease
Anemia, Bone-marrow foam cells, Failure to thrive, Leukopenia, Splenomegaly, Hepatosplenomegaly, ... OMIM:278000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Anemia, Erythroid hypoplasia, Inguinal hernia, Panniculitis, Hypoplasia of the thymus, Failure to... OMIM:612541
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Griscelli Syndrome
Thrombocytopenia, Abnormality of neutrophils, Leukopenia, Splenomegaly ORPHA:381
Immunodeficiency 7
Failure to thrive, Patchy alopecia OMIM:615387
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Growth delay, Alopecia OMIM:163200
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Tremor, Failure to thrive, Thrombocytopenia... ORPHA:525731
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia ORPHA:3453
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Hemochromatosis, Type 1
Alopecia OMIM:235200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Intention tremor, Action tremor, Thrombocytopenia, Postural tremor OMIM:254900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphop... ORPHA:508542
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Athetosis, Tremor, Limb dystonia, Thrombocytopenia ORPHA:572798
Autosomal Dominant Hypocalcemia
Abnormality of the nail, Emotional lability, Depression, Abnormal fingernail morphology, Alopecia ORPHA:428
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, Decreased pr... ORPHA:79124
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation OMIM:614074
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Alopecia ORPHA:93160
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Thrombocytopenia, Splenomegaly, Hypocalcification of dental enamel, Hemo... ORPHA:169090
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Aplastic/hypoplastic toenail, Abnormal eyelash morphol... ORPHA:1775
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:259700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6