Gene Summary

solute carrier family 24 (sodium/potassium/calcium exchanger), member 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytopenia Slc24a3em1(IMPC)Kmpc HOM Early adult 1.51×10-05
abnormal coat/hair pigmentation Slc24a3em1(IMPC)Kmpc HOM Late adult 1.49×10-07
increased grip strength Slc24a3em1(IMPC)Kmpc HOM   Early adult 1.11×10-05
abnormal coat/hair pigmentation Slc24a3em1(IMPC)Kmpc HOM Middle aged adult 5.19×10-06
increased lean body mass Slc24a3em1(IMPC)Kmpc HOM   Late adult 1.74×10-06
increased prepulse inhibition Slc24a3em1(IMPC)Kmpc HOM Early adult 2.37×10-05
decreased respiratory quotient Slc24a3em1(IMPC)Kmpc HOM Early adult 3.07×10-20
increased mean platelet volume Slc24a3em1(IMPC)Kmpc HOM Early adult 3.18×10-33
increased mean platelet volume Slc24a3em1(IMPC)Kmpc HOM Late adult 4.53×10-07
increased fluid intake Slc24a3em1(IMPC)Kmpc HOM Early adult 3.17×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc24a3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Slc24a3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:607373
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Osteopenia, Vomiting, Secretory diarrhea, Villous atrophy, Mi... OMIM:619445
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Schizophrenia 15
Hyperactivity OMIM:613950
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregat... OMIM:617443
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Hyaline Fibromatosis Syndrome
Osteopenia, Diarrhea, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteol... OMIM:228600
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Autoamputation of digits, Hypogonadotropic hypogonadism, Cognitive impai... ORPHA:494
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia, Hypoxemia ORPHA:238459
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Juvenile Hyaline Fibromatosis
Abnormal diaphysis morphology, Joint stiffness, Abnormality of the gastrointestinal tract, Progre... ORPHA:2028
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Xanthoma Disseminatum
Diabetes insipidus, Osteolysis ORPHA:158003
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:608636
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Desmoid Tumor
Gastrointestinal hemorrhage, Limitation of joint mobility, Malabsorption, Intestinal polyposis, I... ORPHA:873
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis, Crypt hyperplasia OMIM:613217
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Acne, Inflammation of the large intestine, Abnormal epiphysis morphology, Craniofacial osteoscler... ORPHA:324964
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Vomiting, Elbow flexion contracture, High palate, Hip contracture, Kn... OMIM:616809
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Maffucci Syndrome
Pituitary adenoma, Osteolysis, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Dy... ORPHA:163634
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Ramon Syndrome
Narrow palate, Diabetes mellitus, Osteolysis ORPHA:3019
Infantile Myofibromatosis
Limitation of joint mobility, Abnormal metaphysis morphology, Intestinal obstruction, Abnormal in... ORPHA:2591
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Ollier Disease
Precocious puberty, Micromelia, Joint stiffness, Abnormal metaphysis morphology, Osteolysis ORPHA:296
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor... OMIM:600785
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip... ORPHA:93160
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractu... ORPHA:793
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Congenital hypothyroidism, Colitis ORPHA:88643
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met... ORPHA:2774
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... ORPHA:92050
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Abnormal hand morphology, Osteolysis inv... ORPHA:371428
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Hartnup Disorder
Attention deficit hyperactivity disorder, Emotional lability, Hyperactivity OMIM:234500
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Central hypothyroidism, Malnutrition, Villous atrophy, Abnormal sma... ORPHA:95427
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormal diaphysis morphology, Brachydactyly, Osteoarthritis, Tarsal synostosis, Abnor... ORPHA:1657
Classic Hodgkin Lymphoma
Skin rash, Poor appetite, Osteolysis, Anorexia ORPHA:391
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morphology, Brachydactyly, Clinodac... ORPHA:137834
Senior-Loken Syndrome 4
Anemia, Polydipsia OMIM:606996
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Abnormal long bone morphology, Fronto... ORPHA:52430
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Joint contracture of the hand, Diarrhea, Vomiting, Clinodactyly, Villous atrophy, Cl... OMIM:601110
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Pathologic fracture, Malabsorpti... ORPHA:98850
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Bowing of the long... ORPHA:249
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Horizontal eyebrow, Long eyelashes, Broad eyebrow, Thrombocytopenia, Synop... OMIM:620475
Small hand, Clubbing of toes, Abnormal epiphysis morphology, Limitation of joint mobility, Gastro... ORPHA:2796
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy OMIM:615863
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce... ORPHA:652
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Diffuse Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Xerostomia, Malabsorption, Nausea and vomiting, Narrow foramen obturator... ORPHA:220393
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Nephronophthisis 9
Anemia, Polydipsia OMIM:613824
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Esophagitis, Abnormal fibula morp... ORPHA:198
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Refractory Celiac Disease
Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, Malnutrition, Villou... ORPHA:398063
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Type I diabetes mellitus, Rec... OMIM:614700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Osteootohepatoenteric Syndrome
Secretory diarrhea, Avascular necrosis of the capital femoral epiphysis, Villous atrophy, Increas... OMIM:619377
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Skin rash, Pustule, Stomatitis, Osteolysis, Fused cervica... OMIM:612852
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Abnormal shoulder morphology, Localized osteoporosis, Abnormal hip ... ORPHA:66627
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608049
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Joint stiffness, Cognitive impairment, Generalized osteoporosis, Flexion ... ORPHA:423461
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Gastroesophageal reflux, Recurrent... ORPHA:449291
Ck Syndrome
Abnormal cortical bone morphology, Irritability, Abnormal digit morphology, Aggressive behavior, ... OMIM:300831
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Villous atrophy, Malabsorption, Hypogona... OMIM:600955
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Skin rash, Neoplasm of the tongue, Dysphagia, Osteolysis ORPHA:100026
Gaucher Disease Type 1
Osteopenia, Hepatic failure, Erlenmeyer flask deformity of the femurs, Depression, Pathologic fra... ORPHA:77259
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Immunodeficiency 31C
Osteopenia, Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous ca... OMIM:614162
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Trichohepatoenteric Syndrome 1
Failure to thrive, Fine hair, Trichorrhexis nodosa, Curly hair, Splenomegaly, Brittle hair, Wooll... OMIM:222470
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Syndromic Diarrhea
Trichorrhexis nodosa, Lymphopenia, Brittle hair, Splenomegaly, Hypoplasia of the thymus, Uncombab... ORPHA:84064
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Felty Syndrome
Recurrent pneumonia, Limitation of joint mobility, Osteolysis, Episcleritis, Synovitis, Arthritis... ORPHA:47612
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Impaired platelet aggregation, A... OMIM:614072
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Joint stiffness, Skin rash, Myo... ORPHA:809
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti... OMIM:604416
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties in infancy, Enterocolitis, E... OMIM:616050
Nestor-Guillermo Progeria Syndrome
Pathologic fracture, Decreased serum leptin, Joint stiffness, Mandibular osteolysis, Limited elbo... OMIM:614008
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine, Diabetes mellitus ORPHA:46487
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Melena, Bloody diarrhea, Abnormal gastrointestinal tra... ORPHA:464321
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Alpha-Mannosidosis, Infantile Form
Pneumonia, Osteopenia, Macroglossia, Depression, Cranial hyperostosis, Confusion, Joint stiffness... ORPHA:309282
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Ileus, Villous atrophy, Hypothyroidis... OMIM:304790
Obesity And Hypopigmentation
Red hair, Obesity OMIM:620195
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Eleva... OMIM:264700
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Eleva... OMIM:277440
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... OMIM:300635
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Vomiting, Diarrhea, Villous atrophy, Hyperinsulinemi... OMIM:602579
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Type I diabetes mellitus, Diarrhea, Inflammatory abnormality of the skin, Eczematoid ... ORPHA:391487
Immunodeficiency 85 And Autoimmunity
Vomiting, Eczematoid dermatitis, Villous atrophy, Oligoarthritis, Erythroderma, Tube feeding, Chr... OMIM:619510
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis OMIM:614328
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Sparse eyebrow, Thrombocytopenia, Increased mean platelet volume, Synophrys OMIM:616737
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Lennox-Gastaut Syndrome
Aggressive behavior, Hyperactivity, Irritability ORPHA:2382
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Ck Syndrome
Irritability, Joint hypermobility, Aggressive behavior, Long toe, Hyperactivity, Long fingers, Hi... ORPHA:251383
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Limitation of joint mobility, Acroosteolysis of distal phalanges ... ORPHA:90153
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Anemia, Thrombocytopenia ORPHA:673
Erdheim-Chester Disease
Polydipsia, Abnormal epiphysis morphology, Osteomyelitis, Nausea and vomiting, Skin rash, Hypogon... ORPHA:35687
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Gand Syndrome
Tics, Inappropriate laughter, Hyperactivity OMIM:615074
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Inflammation of the large intestine, Crohn's disease, Clubbing of fingers OMIM:615767
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Central Diabetes Insipidus
Polydipsia, Anorexia ORPHA:178029
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Papillon-Lefèvre Syndrome
Periodontitis, Arachnodactyly, Pustule, Recurrent cutaneous abscess formation, Chronic furunculos... ORPHA:678
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Decreased serum insulin-like growth factor 1, Hyperactivity, El... OMIM:608747
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... OMIM:617638
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Thrombocytopenia OMIM:611209
Intellectual Developmental Disorder, Autosomal Dominant 67
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Motor tics, Hypothyroidism, Hy... OMIM:619927
H Syndrome
Bronchiectasis, Osteolysis, Hypogonadism, Psoriasiform dermatitis, Malabsorption, Chronic rhiniti... ORPHA:168569
Ankylosis, Keratoconjunctivitis sicca, Keratitis, Osteolysis ORPHA:182
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous can... ORPHA:98813
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Acroosteolysis of distal phalanges... ORPHA:90154
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter, Hyperactivity, Motor stereotypy OMIM:618718
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Osteomalacia, Recurrent otitis media, Anorexia, Abd... OMIM:619381
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Tibi... OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin... OMIM:241530
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... OMIM:209920
Periostitis, Depression, Diarrhea, Vomiting, Joint stiffness, Skin rash, Maculopapular exanthema,... ORPHA:324625
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Stuve-Wiedemann Syndrome 2
Dysphagia, Thrombocytopenia OMIM:619751
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Keratitis, Camptodactyly of finger, Abnormal hand morphol... ORPHA:464
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Landau-Kleffner Syndrome
Depression, Memory impairment, Short attention span, Emotional lability, Aggressive behavior, Att... ORPHA:98818
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Immunodeficiency 70
Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle OMIM:618969
Chromosome Xq13 Duplication Syndrome
Recurrent otitis media, Limited elbow extension, Emotional lability, Finger joint hypermobility, ... OMIM:301069
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Hajdu-Cheney Syndrome
Osteopenia, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Peri... ORPHA:955
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Delayed early-childhood social milestone development, Hyperactivity OMIM:618090
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Diarrhea, Vomiting, Villous atrophy, Feeding difficulties in infancy, Hypothyroidism,... OMIM:212065
Chylomicron Retention Disease
Vomiting, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Stea... OMIM:246700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Familial Dysautonomia
Gastroesophageal reflux, Feeding difficulties in infancy, Recurrent fractures, Osteolysis ORPHA:1764
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Recurrent infection of the gastrointestinal tract, Vill... OMIM:256500
Pneumonia, Mental deterioration, Memory impairment, Vomiting, Osteomyelitis, Peritonitis, Prostat... ORPHA:1546
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Thrombocytopenia OMIM:615750
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Nephronophthisis 4
Anemia, Polydipsia OMIM:606966
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
19P13.3 Microduplication Syndrome
Self-injurious behavior, Precocious puberty, Gastroesophageal reflux, Clinodactyly, Irritability,... ORPHA:447980
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Pneumonia, Folliculitis, Osteomyelitis, Morbilliform rash, Abnormal long bone morphology, Skin ra... ORPHA:228123
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Depression, Viral hepatitis, Sc... ORPHA:2137
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Colitis, Chronic d... OMIM:619281
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Pediatric-Onset Graves Disease
Polydipsia, Splenomegaly, Polyphagia, Hyperactivity, Thrombocytopenia, Neutropenia in presence of... ORPHA:525731
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Depression, Gastroesophageal reflux, Short attention span, Nausea a... OMIM:620242
Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, Hemolytic anemia ORPHA:108
Gaucher Disease
Osteopenia, Hepatic failure, Depression, Arthrogryposis multiplex congenita, Hepatitis, Pathologi... ORPHA:355
Amed Syndrome, Digenic
Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid leukemia, Thrombocytopenia, A... OMIM:619151
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:49827
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Colitis, Abdominal pain, Kera... ORPHA:309031
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Broad distal phalanx of finger, Inappropriate laughter, Obsessive-compulsive trait, Self-mutilati... ORPHA:363686
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Bifid uvula, Rhizomelia, Gastroesophageal reflux, Diarrhea, Vomiting, Flared metaphysis, Villous ... ORPHA:79328
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis, Abnormal femur morphology, Abnormal ischium morphology, ... ORPHA:464329
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anorexi... ORPHA:507
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair ORPHA:71526
Familial Cold Urticaria
Polydipsia ORPHA:47045
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Elevated circulating par... ORPHA:289157
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Fg Syndrome 3
Broad thumb, Broad hallux, Chronic constipation, Hyperactivity, Joint contracture, Feeding diffic... OMIM:300406
Gaucher Disease Type 3
Increased susceptibility to fractures, Delayed puberty, Dementia, Increased bone mineral density,... ORPHA:77261
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Stomach cancer, Intestinal polyposis, Hypothyroidism, Clinodactyly of the 5th f... ORPHA:1052
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Feeding difficulties, Abnormal bon... ORPHA:83451
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Hip dislocation OMIM:608776
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Eczematoid dermatitis, Villous atrophy, Psoriasiform dermatitis, Hypoth... OMIM:606367
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Short clavicles, Acroosteolysis of distal ... OMIM:608612
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Pathologic fracture, Increased fecal coproporphyrin 1,... OMIM:263700
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to ... OMIM:615516
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Generalized h... ORPHA:3322
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair ORPHA:2221
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Nephronophthisis 1
Anemia, Polydipsia OMIM:256100
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Hip dislocation, Clubbing of toes, Aplastic clav... ORPHA:3474
Mucopolysaccharidosis, Type Iiib
Diarrhea, Joint stiffness, Aggressive behavior, Hyperactivity, Progressive neurologic deteriorati... OMIM:252920
48,Xxxy Syndrome
Gastroesophageal reflux, Abnormal epiphysis morphology, Hypogonadism, Type II diabetes mellitus, ... ORPHA:96263
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hypogonadism, Joint hypermobility, 2-3 toe syndactyly, Talipes equinovarus, A... ORPHA:3306
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Short distal phalanx of finger, Insulin-resistant diabetes mellitus, Elbow flexion co... OMIM:248370
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Sandal gap, Polyphagia, Motor stereotypy, Constipation, Hyperactivity, H... ORPHA:228402
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Sparse eyebrow, Thrombocytopenia, Increased mean platelet volume, Synophrys ORPHA:487796
Atelis Syndrome 1
Anemia, Leukopenia, Attention deficit hyperactivity disorder, Thrombocytopenia OMIM:620184
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Irritability, Polyphagia, Increased circul... OMIM:275000
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Congenital hypothyroidism, Brachydactyly, Short metatarsal, Hyperactivity,... OMIM:614613
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Bloo... ORPHA:810
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Type I diabetes mel... ORPHA:436159
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Osteopenia, Scleritis, Keratoconjunctivitis, Increased fecal porphyrin, ... ORPHA:95159
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Hip dysplasia, Motor stereotypy, Abnormal social behavio... ORPHA:530983
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
17Q11 Microdeletion Syndrome
Precocious puberty, Osteopenia, Memory impairment, Elevated circulating parathyroid hormone level... ORPHA:97685
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Gastroesophageal reflux, Rickets, Osteomalacia, Avascular necrosis of the capital fem... ORPHA:1901
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Depression, Decreased response to growth hormone stimulation test, Hyper... OMIM:601853
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr... OMIM:619172
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Increased suscept... ORPHA:79259
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Pancytopenia, Decreased proportion of CD4-positive helper... ORPHA:101096
Ochoa Syndrome
Polydipsia ORPHA:2704
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Nephronophthisis 11
Anemia, Polydipsia OMIM:613550
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Feeding diffic... ORPHA:3260
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Teratoma, Pineal
Polydipsia OMIM:273120
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Failure to thrive, Premature graying of hair, Lymphopenia, Multiple cafe-au-lait spots, Hypopigme... ORPHA:100
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Diarrhea, Vomiting, Patellar hypoplasia, Nasogas... ORPHA:221008
Infantile Neuroaxonal Dystrophy
Mental deterioration, Aspiration pneumonia, Short attention span, Emotional lability, Constipatio... ORPHA:35069
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi... ORPHA:289176
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Finger syndactyly, Camptodactyly o... ORPHA:2908
Whipple Disease
Anemia, Polydipsia, Splenomegaly, Anorexia ORPHA:3452
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Broad thumb, Emotional lability, Reduced social reciprocity, Low frustration tolerance, Arachnoda... OMIM:309520
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:90045
Primary Sclerosing Cholangitis
Osteopenia, Type I diabetes mellitus, Depression, Uveitis, Hepatitis, Celiac disease, Acute hepat... ORPHA:171
Senior-Loken Syndrome 1
Anemia, Polydipsia OMIM:266900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Depression, Limitation of joint mobility, Gastroesophageal reflux, Osteolysi... ORPHA:285
Mucopolysaccharidosis, Type Iiic
Diarrhea, Joint stiffness, Hyperactivity, Motor deterioration, Dysphagia, Dense calvaria OMIM:252930
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Genu valgum, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Hypopl... ORPHA:239
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion