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Gene: Stim1 MGI:107476

Gene Summary

Name:

stromal interaction molecule 1

Synonyms:

SIM

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal placenta vasculature	Stim1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal eye morphology	Stim1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Stim1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal vitreous body morphology	Stim1^em1(IMPC)Mbp	HET	Late adult	4.80×10^-06
increased neutrophil cell number	Stim1^em1(IMPC)Mbp	HET	Early adult	9.22×10^-05
abnormal lymph node morphology	Stim1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged kidney	Stim1^em1(IMPC)Mbp	HET	Early adult	0.00
microphthalmia	Stim1^em1(IMPC)Mbp	HOM	E15.5	0.00
cataract	Stim1^em1(IMPC)Mbp	HET	Late adult	1.51×10^-05
enlarged heart	Stim1^em1(IMPC)Mbp	HET	Early adult	0.00
small kidney	Stim1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Stim1^em1(IMPC)Mbp	HET	Late adult	0.00
microphthalmia	Stim1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal placenta morphology	Stim1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal skin morphology	Stim1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Stim1^em1(IMPC)Mbp	HET	Late adult	0.00
increased lymphocyte cell number	Stim1^em1(IMPC)Mbp	HET	Early adult	9.62×10^-14
abnormal placenta morphology	Stim1^em1(IMPC)Mbp	HET	E15.5	0.00
increased leukocyte cell number	Stim1^em1(IMPC)Mbp	HET	Early adult	1.37×10^-11
preweaning lethality, complete penetrance	Stim1^em1(IMPC)Mbp	HOM	Early adult	0.00
embryonic growth retardation	Stim1^em1(IMPC)Mbp	HET	E15.5	0.00
decreased exploration in new environment	Stim1^em1(IMPC)Mbp	HET	Early adult	1.09×10^-08
abnormal kidney morphology	Stim1^em1(IMPC)Mbp	HET	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

128 Images

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X-ray

XRay Images Whole Body Lateral Orientation

64 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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Gross Morphology Embryo E14.5-E15.5

Images

20 Images

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Histopathology

Images

3 Images

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Human diseases caused by Stim1 mutations

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

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

Human diseases associated with Stim1 (5 diseases)
Human diseases predicted to be associated with Stim1 (2308 diseases)

The table below shows human diseases associated to Stim1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epist...	OMIM:185070
Immunodeficiency 10	Myopathy, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia, Purpura	ORPHA:3204

The table below shows human diseases predicted to be associated to Stim1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg...	OMIM:139090
Essential Thrombocythemia	Myelofibrosis, Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal plate...	ORPHA:3318
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Myelofibrosis, Increased...	OMIM:187900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Megakaryocyte dysplasia, ...	OMIM:155100
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Thrombocytopenia 6	Abnormal bleeding, Spontaneous, recurrent epistaxis, Myelofibrosis, Bone marrow hypercellularity,...	OMIM:616937
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ...	ORPHA:86843
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage	OMIM:618462
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	OMIM:619733
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Ca...	ORPHA:603
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment, Distal amyotrophy, Mildly elevated creatine kinase, Fiber type...	OMIM:614369
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho...	OMIM:609115
Thrombocytopenia 2	Increased megakaryocyte colony forming unit count, Leukocytosis, Bruising susceptibility, Thrombo...	OMIM:188000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:618129
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu...	OMIM:616199
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl...	OMIM:615424
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620286
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impa...	OMIM:615888
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ...	OMIM:609200
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber...	OMIM:500002
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ...	OMIM:158600
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske...	OMIM:614321
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura	OMIM:254450
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w...	OMIM:616228
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Centrally nucleated ske...	ORPHA:86812
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H...	OMIM:617760
Myopathy, Centronuclear, 4	Frequent falls, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomina...	OMIM:614807
Nonaka Myopathy	Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti...	OMIM:605820
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Rhabdomyolysis, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R...	OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu...	OMIM:608423
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea...	ORPHA:401768
Nemaline Myopathy 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl...	OMIM:609273
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F...	OMIM:620246
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem...	ORPHA:276435
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Upper limb muscle weakne...	ORPHA:309169
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k...	OMIM:618655
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ...	OMIM:609500
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu...	OMIM:616471
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:601846
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Impaired vibration sensation in the lower limbs, Intrinsic hand muscle...	ORPHA:399081
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, D...	OMIM:611705
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce...	OMIM:620386
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t...	OMIM:620068
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal me...	ORPHA:238459
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Somatic sensory dysfunction, Elevated circulating creatine kinase c...	OMIM:616924
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity	OMIM:545000
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati...	ORPHA:178464
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm...	OMIM:609524
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ...	OMIM:620310
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Ataxia, Elevated circulating creatine kinase concentra...	OMIM:248800
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Ecchymosis, Bruising susceptibility, Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C...	OMIM:613530
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul...	OMIM:618823
Welander Distal Myopathy	Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles	OMIM:604454
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Flexion contracture,...	OMIM:300718
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration...	ORPHA:424107
Myopathy, Vacuolar, With Casq1 Aggregates	Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-containing inclu...	OMIM:616231
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:613204
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentrati...	OMIM:255160
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Frequent falls, ...	ORPHA:353
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating creatine kinase concentrat...	OMIM:615048
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I...	OMIM:619216
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ...	ORPHA:486815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat...	OMIM:601954
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet...	ORPHA:488650
Bleeding Disorder, Platelet-Type, 8	Ecchymosis, Impaired ADP-induced platelet aggregation, Bruising susceptibility	OMIM:609821
Immunodeficiency 95	Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin...	OMIM:619773
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,...	OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired temperature sensation, Impai...	OMIM:619574
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Merrf	Myopathy, Ragged-red muscle fibers, Ataxia	ORPHA:551
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kinase concentration, Fatty ...	ORPHA:266
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Elevated circulating creatine kinase concentrati...	OMIM:619542
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Elevated circula...	OMIM:616209
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we...	ORPHA:171442
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli...	OMIM:619042
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su...	OMIM:601399
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy	OMIM:617018
Oculopharyngodistal Myopathy 2	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas...	OMIM:618940
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto...	OMIM:153670
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Le...	OMIM:160500
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f...	OMIM:255310
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Elevated circulating creatine kinase concentration, Flexion contracture, Scoliosis, Increased var...	OMIM:300717
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle...	OMIM:612937
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity	OMIM:611105
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Scoliosi...	OMIM:617066
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ...	OMIM:181400
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,...	ORPHA:721
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E...	OMIM:619566
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ...	ORPHA:270
Amegakaryocytic Thrombocytopenia, Congenital, 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Central Core Disease	Multiple joint contractures, Elevated circulating creatine kinase concentration, Kyphoscoliosis, ...	ORPHA:597
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Distal sensory i...	ORPHA:399086
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos...	OMIM:255200
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter...	ORPHA:1878
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:618654
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra...	ORPHA:206599
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Diaphr...	OMIM:614399
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Myopath...	OMIM:255100
Nemaline Myopathy 7	Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee ...	OMIM:610687
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Increased intra...	OMIM:619065
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent...	OMIM:619473
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E...	OMIM:617072
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu...	ORPHA:3226
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Hand ...	ORPHA:254886
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620138
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Frequent falls, Elevated circulating creatine kinase concentration, Abnorm...	ORPHA:75840
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased circulating cre...	OMIM:302045
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Spasticity	OMIM:618242
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon...	OMIM:300835
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:310440
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Elevated circulating creatine kinase concentration	OMIM:606768
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio...	ORPHA:97240
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, ...	ORPHA:238329
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Dilated cardiomyopathy, Increased variability in muscle fiber diameter, ...	OMIM:611615
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men...	OMIM:616176
Polycythemia Vera	Gastrointestinal hemorrhage, Myelofibrosis, Hepatomegaly, Epistaxis, Portal hypertension, Portal ...	ORPHA:729
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration	OMIM:607091
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormality...	ORPHA:154
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, S...	OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ...	OMIM:253601
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis	OMIM:618323
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Myopathy, Myofibrillar, 8	Scapular winging, Frequent falls, Elevated circulating creatine kinase concentration, Centrally n...	OMIM:617258
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ...	ORPHA:182050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	ORPHA:254864
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ...	ORPHA:324581
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Lumbar hyperlordosis, Facial palsy, Elevated circulating creatine kinase concen...	ORPHA:353327
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca...	ORPHA:59135
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Scoliosis, EMG: myopathic abn...	OMIM:609284
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,...	ORPHA:75564
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:619790
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l...	ORPHA:160
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Elevated creat...	ORPHA:352470
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased...	OMIM:610717
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Abnor...	ORPHA:171445
Combined Oxidative Phosphorylation Deficiency 6	Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fiber...	OMIM:300816
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Elevated circulating creatine kinase concent...	ORPHA:280333
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal cir...	OMIM:615959
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Failure to thrive, Nemaline bodies	OMIM:618246
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Myopathy, Type 1 muscle fiber predomi...	OMIM:603034
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Elbow flexion contracture, Hamstring con...	ORPHA:97244
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Impaired vibratory sensation, Achilles tendon contracture, Babinski...	ORPHA:2596
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Impaired distal prop...	OMIM:258450
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations	OMIM:182980
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Elevated...	OMIM:613954
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy, Ataxia	ORPHA:2579
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concen...	OMIM:500009
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis	OMIM:158580
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly, Myopathy	ORPHA:33574
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Myopathy, Distal, 3	Split hand, Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Join...	OMIM:610099
Hereditary Continuous Muscle Fiber Activity	Ataxia, Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Slur...	ORPHA:972
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ...	ORPHA:98911
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Severe short stature, Death in childhood	OMIM:302000
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy, Scoliosis	ORPHA:50817
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Skeletal muscle atrophy, Myopathy	ORPHA:2597
Isolated Glycerol Kinase Deficiency	Myopathy, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	ORPHA:408
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Frequent falls, Hyperlordosis, Rigidity, Dilated cardiomyopathy, Limb muscle weakne...	OMIM:161800
Myopathy, Myofibrillar, 2	Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl...	OMIM:608810
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac...	ORPHA:370980
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,...	OMIM:500003
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Anemia	ORPHA:2598
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Dystonia, Hypertrophic cardiomyopat...	OMIM:618237
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ...	OMIM:614072
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy...	OMIM:608340
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,...	OMIM:603689
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fib...	OMIM:618416
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Aplasia Cutis Congenita	Prolonged bleeding time, Abnormality of bone mineral density	ORPHA:1114
Miyoshi Muscular Dystrophy 1	Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ...	OMIM:254130
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Elevated circulating creatine...	OMIM:301830
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc...	ORPHA:274
Leber Hereditary Optic Neuropathy	Postural tremor, Myopathy, Ataxia	ORPHA:104
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Decreased cervical spine flexion due to contr...	ORPHA:98855
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Myopathy, Myofibrillar, 6	Scapular winging, Thoracic scoliosis, Facial palsy, Restrictive cardiomyopathy, Elevated circulat...	OMIM:612954
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin...	ORPHA:261
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Dystonia, Ataxia, Tongue fasciculations, Type 1 muscle fiber predominanc...	OMIM:618276
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin...	ORPHA:98853
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty repla...	OMIM:620249
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300695
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Hyperlordosis, Chorea, Right ventricular dilatation, Myopathy, Abnormal circulating...	ORPHA:369840
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin...	ORPHA:98863
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Facial palsy, Impaired pain sensation, Flexion contracture, Impaired distal ...	OMIM:607684
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsi...	ORPHA:101077
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Myop...	ORPHA:300179
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri...	OMIM:609452
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Slender build, Elevated circulating creatine kinase concentration, Hyperlordosis, Myopathy, Shoul...	OMIM:615156
Dpm3-Cdg	Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle...	ORPHA:263494
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia...	OMIM:616719
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage	ORPHA:1980
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia	OMIM:602079
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Qua...	ORPHA:206546
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra...	OMIM:617069
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg...	OMIM:614076
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci...	OMIM:618138
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop...	OMIM:607317
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Myopathy, Cardiomyopathy, Hypertonia, Dystonia,...	ORPHA:26792
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:615368
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila...	ORPHA:34515
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem...	ORPHA:329478
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy, Hemolytic anemia	OMIM:230450
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:620265
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m...	OMIM:619903
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi...	OMIM:615382
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc...	ORPHA:100024
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Amyotrophic Lateral Sclerosis 21	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H...	OMIM:606070
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne...	OMIM:620389
Bleeding Disorder, Platelet-Type, 12	Bruising susceptibility, Impaired platelet aggregation	OMIM:605735
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Acute Lung Injury	Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Tach...	ORPHA:178320
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers...	OMIM:620351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Roussy-Lévy Syndrome	Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem...	ORPHA:3115
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter...	ORPHA:70578
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista...	OMIM:618387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Elevated circulating creatine kinase concentration, Calf...	OMIM:611307
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia	ORPHA:366
Congenital Myopathy 16	Scapular winging, Lumbar hyperlordosis, Postural tremor, Flexion contracture, Tongue tremor, Scol...	OMIM:618524
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim...	ORPHA:101075
Moderate Multiminicore Disease With Hand Involvement	Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance	ORPHA:178145
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally...	OMIM:613327
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:310300
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Ethanolaminosis	Cardiomegaly	OMIM:227150
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperl...	OMIM:232400
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili...	ORPHA:397744
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired proprioception, ...	ORPHA:251282
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal motor function, Dystonia	OMIM:615159
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hypertrophy, C...	OMIM:613157
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular...	OMIM:619041
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Refractory Anemia	Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro...	ORPHA:98826
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Hyperlordosis, Flexion contracture, Myopathy	ORPHA:157973
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Ataxia	OMIM:551500
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Slender build...	OMIM:254090
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardi...	OMIM:618234
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Flexion contracture, Babinski sign, Spasticity, Distal sensory impairment, Distal amyotro...	OMIM:609260
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Failure to thrive, C...	OMIM:614096
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Spasticity, Ataxia, Increased variability in muscle fiber diameter	OMIM:125250
Combined Oxidative Phosphorylation Deficiency 31	Hyperalaninemia, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid dro...	OMIM:617228
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hepatic steatosis, Lumbar hyperlordosis, Elevated circulating creatine k...	OMIM:615980
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a...	OMIM:607458
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac...	OMIM:610140
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, C...	OMIM:300842
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Myopathy, Dysdiadochokinesis, Progressive cerebellar ataxia, Myoc...	ORPHA:254881
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Kyphoscoliosis, Flexion contracture, Increase...	OMIM:607855
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Splenomegaly, Thrombocytopenia, An...	OMIM:611490
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ...	OMIM:609285
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Sideroblastic anemia, Elevated circulating creatine kinase concentration...	OMIM:255125
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:614075
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ...	OMIM:617070
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g...	OMIM:603511
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Hemolytic anemia, Elevated creatine kinas...	ORPHA:57
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Scoliosis	ORPHA:101078
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Bone...	ORPHA:824
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy	OMIM:610542
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Marinesco-Sjögren Syndrome	Short palm, Skeletal muscle atrophy, Ataxia, Coxa valga, Avascular necrosis of the capital femora...	ORPHA:559
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Decreased circulating antibody level, Decre...	ORPHA:859
B-Cell Expansion With Nfkb And T-Cell Anergy	Lymphoid hyperplasia, Decreased specific antibody response to polysaccharide vaccine, Splenomegal...	OMIM:616452
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Cardiomyop...	ORPHA:119
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Acquired Partial Lipodystrophy	Myopathy, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Slurred speech, Myoclonus, Nonprogressive cerebellar...	ORPHA:3327
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytop...	ORPHA:3260
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Purpura	ORPHA:529
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis	OMIM:619099
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s...	ORPHA:363400
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal...	OMIM:159950
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Spastic Paraplegia Type 7	Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ...	ORPHA:99013
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Hemiparesis	OMIM:540000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina...	OMIM:609308
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Thrombocytopenia	OMIM:274240
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, Myopathy, Erythroid hyperplasia	OMIM:300653
Spinocerebellar Ataxia 28	Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, ...	OMIM:610246
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Abnormality of the lymphatic system	ORPHA:638
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P...	OMIM:612541
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Elevated circulating ...	OMIM:606612
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Anem...	OMIM:226670
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Flexion contracture, Abnormal muscle ...	ORPHA:367
Typical Nemaline Myopathy	Facial palsy, Elevated circulating creatine kinase concentration, Hyperlordosis, Limb-girdle musc...	ORPHA:171436
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration...	ORPHA:42
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Rhabdomyol...	ORPHA:713
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Hypoglycinemia, Hyposerinemia	OMIM:610992
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Abnormality of thromboc...	OMIM:612840
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinodactyly, Incre...	ORPHA:178148
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
Spastic Paraplegia 17, Autosomal Dominant	Lower limb spasticity, Postural tremor, Thenar muscle atrophy, Impaired distal proprioception, Th...	OMIM:270685
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos...	OMIM:210250
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio...	OMIM:300559
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib...	OMIM:128230
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Elevated circulating creatine kinase concentration, Kyphosis, Dilated cardiomyopathy, Ragged-red ...	ORPHA:352447
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus	OMIM:617235
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopath...	OMIM:602541
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen...	OMIM:619424
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
X-Linked Immunoneurologic Disorder	Myopathy, Hypertonia, Hemiplegia/hemiparesis	ORPHA:2571
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina...	OMIM:613818
Nanophthalmos 4	Microphthalmia	OMIM:615972
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent...	ORPHA:206569
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:91130
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty replacement of skeletal ...	ORPHA:52430
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ...	OMIM:613101
Nanophthalmos	Microphthalmia	ORPHA:35612
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Babinski...	OMIM:252011
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Ragged-red muscle fibers, Generalized amyotrophy, Hypertrophi...	OMIM:613561
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol...	OMIM:256550
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio...	OMIM:270800
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy...	OMIM:617519
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hype...	OMIM:620285
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154276
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Extremely elevated creatine kinase, Somatic sensory dysfunction, Upper limb muscle weakness, Dist...	ORPHA:99939
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Cerebe...	ORPHA:99901
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Scolios...	ORPHA:254875
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes...	OMIM:609560
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Failure to thrive, Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Hemiplegia/hemiparesis	ORPHA:480
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count	OMIM:609981
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Thrombocytopeni...	OMIM:169400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Ba...	OMIM:608840
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber...	OMIM:620161
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Flexion contracture, Myopathy, Cardiomyopathy, Cervical C2/C3 vertebral ...	OMIM:616549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c...	OMIM:616052
Sea-Blue Histiocytosis	Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h...	ORPHA:158029
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predominance, Myoclonus	OMIM:619028
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated ...	ORPHA:682
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hypophosphatasia, Childhood	Myopathy, Elevated plasma pyrophosphate, Bowing of the legs	OMIM:241510
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Optic Atrophy 11	Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperkinetic movements...	OMIM:617302
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Right ventricular dilatation, Myopathy, Hyperkinetic movements, Limb-girdle muscular dyst...	ORPHA:369847
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he...	OMIM:212140
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Noncompaction cardiomyopathy, Ataxia, Spastic tetraparesis, Babinski sig...	ORPHA:3208
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Jaundice, Myopathy	ORPHA:2349
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epist...	OMIM:185070
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca...	ORPHA:272
Snakebite Envenomation	Hyponatremia, Abnormal bleeding, Epistaxis, Paralysis, Rhabdomyolysis, Intracranial hemorrhage, P...	ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter...	OMIM:616470
Congenital Disorder Of Glycosylation, Type Iif	Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ...	OMIM:603585
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression	ORPHA:330054
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Abnormal bleeding, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Congenital Myopathy 24	Scapular winging, Facial palsy, Cardiomyopathy, Abnormal circulating creatine kinase concentratio...	OMIM:617336
Thrombocytopenia 5	Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula...	OMIM:616216
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu...	ORPHA:166002
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl...	ORPHA:64743
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor...	OMIM:615512
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type...	ORPHA:171433
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Failure to thrive in infancy, Flexion contracture, Spastic paraplegia, Scoliosis,...	OMIM:619026
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception, Impaired p...	ORPHA:14
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154275
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Skeletal muscle hypertrophy, Scol...	ORPHA:99014
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosi...	OMIM:615415
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosi...	OMIM:617710
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, El...	OMIM:300280
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Myofibrillar Myopathy 10	Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos...	OMIM:619040
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ...	ORPHA:324604
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Distal amyotr...	OMIM:180800
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Lymphadenopathy, Cognitive impairment, Anemia	ORPHA:858
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cel...	OMIM:608233
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Flexion contractur...	ORPHA:87876
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal muscle fiber size, Skel...	ORPHA:2348
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp...	ORPHA:67044
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine...	ORPHA:172
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Abnormality of s...	ORPHA:79083
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increas...	ORPHA:681
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Distal sensory impairment,...	OMIM:606842
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs	ORPHA:882
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle atrophy, Tremor, Thenar muscle weakness, Split hand, Distal sensory impairment, Dis...	OMIM:118300
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ...	OMIM:603909
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Hypokalemia, Periodic paralysis	OMIM:613345
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, ...	ORPHA:507
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Flexion contracture, Clumsiness, Hepatosplenomegaly, Eyelid myoclonus, Myoclonus, Scolios...	ORPHA:2590
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di...	OMIM:208920
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Ragged-red muscle fibers	OMIM:616794
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti...	OMIM:157640
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Ragg...	OMIM:616479
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build	OMIM:613662
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased circulating 12-HETE, Impaired platelet aggregation, Abnormal circulating eicosanoid con...	OMIM:618372
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevate...	OMIM:616828
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration	OMIM:261670
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Hepatomegaly, Mediastinal...	ORPHA:809
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Osteoporosi...	ORPHA:79301
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ...	ORPHA:206559
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo...	OMIM:600363
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Distal sensory impairment, Abnormality of the calf...	ORPHA:600
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Centrally nucl...	OMIM:616503
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Tetraparesis, Involuntary movements, Upper limb postural tremor	ORPHA:477774
Sengers Syndrome	Myopathy, Hypertrophic cardiomyopathy, Thrombocytopenia	OMIM:212350
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Microcytic anemia, Ascites, I...	ORPHA:90308
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Abnormal ci...	ORPHA:206572
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis, Obesity, Myopathy, Cardiomyop...	ORPHA:98907
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:616570
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Limb ataxia, Dista...	OMIM:617675
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, Nephrotic syndrome...	OMIM:617303
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon...	ORPHA:98913
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia	OMIM:300988
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Ventricular septal defect, Ataxia, Clonus, Elev...	OMIM:615673
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber diameter, Dysmetria, I...	ORPHA:502423
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Diaphragmatic paralysis, Craniofacial dystonia, Plantar flexion contract...	OMIM:620011
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Elevated circulating creatine kinase concentration	OMIM:619024
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Elevated circulating creatine kina...	ORPHA:254361
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Clonus, Elevated circulating creatine kinase concentration, Flexion contracture, Muscle fiber atr...	OMIM:620240
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ...	OMIM:611588
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp...	OMIM:613845
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Hypoalbuminemia, Decrease...	OMIM:241600
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, Myofiber disarray, Myopathy, Limb dystonia, Increased var...	OMIM:604377
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Immunodeficiency 10	Myopathy, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Pgm3-Cdg	Hemolytic anemia, Lymphopenia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia,...	ORPHA:443811
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Aregenerative Anemia	Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni...	ORPHA:101096
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Elevated circulating creatine kinase concentration, Kyphosis, Ragged-red muscle fib...	OMIM:615084
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi...	OMIM:616239
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Skeletal muscle atrophy, Oculogyric crisis, Tremor, Scoliosis, Dystonia	ORPHA:330050
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci...	OMIM:620282
Congenital Disorder Of Glycosylation, Type Iik	Metaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentration, Kyphosco...	OMIM:614727
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Hermansky-Pudlak Syndrome 11	Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind...	OMIM:619172
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Ataxia, Spastic paraplegia, Hemipar...	ORPHA:98673
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Talipes equinovarus, Scoliosis, Neutropenia, Reduced natural killer cell count, Cuta...	OMIM:619752
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Impaired proprioce...	ORPHA:71
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Neuralgic Amyotrophy	Acrocyanosis, Short stature	ORPHA:2901
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Osteosclero...	ORPHA:210110
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Hyperlordosis, In...	OMIM:600462
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Tachypnea, Increased circulating interferon-ga...	ORPHA:542323
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,...	OMIM:500013
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splen...	OMIM:257200
Wilson Disease	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Increased body weight, Hepatitis, Weight ...	ORPHA:905
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the lymphat...	ORPHA:54251
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili...	OMIM:300367
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Hemophagocytic Lymphohistiocytosis, Familial, 1	Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H...	OMIM:267700
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, C...	ORPHA:98908
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculature, Limb muscle...	OMIM:608930
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Meckel Syndrome, Type 8	Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer...	OMIM:618108
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Cog4-Cdg	Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thromb...	ORPHA:263501
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu...	OMIM:608799
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Cardiomyopathy, Scoliosis, Weakne...	OMIM:201470
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Ataxia-Telangiectasia	Skeletal muscle atrophy, Lymphopenia, Ataxia, Tremor, Spasticity, Failure to thrive, Aplasia/Hypo...	ORPHA:100
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Thrombocytopenia, Rad...	OMIM:194350
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ...	ORPHA:158061
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Hypokalemia, Periodic paralysis	OMIM:170400
Autosomal Dominant Optic Atrophy Plus Syndrome	Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Myopathy, Cardiomyopathy	ORPHA:1215
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Failure to th...	OMIM:229050
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Thrombocytopenia, Hy...	OMIM:619743
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Free Sialic Acid Storage Disease	Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the abdom...	ORPHA:834
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:228305
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Thoracic scoliosis, Cerebral hemorrhage, Abnormality of skeletal muscle ...	OMIM:620278
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Death in infancy, Splenomegaly, Leukocytosis, Respiratory insufficiency, Decreased circulating an...	OMIM:618042
Perching Syndrome	Cyanosis	OMIM:617055
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B...	OMIM:615157
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Splenomegaly, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Cardiomy...	ORPHA:79312
Monomelic Amyotrophy	Tremor, Distal upper limb amyotrophy, Fasciculations	ORPHA:65684
Pseudoachondroplasia	Metaphyseal widening, Abnormal form of the vertebral bodies, Short phalanx of finger, Genu varum,...	ORPHA:750
Kaposiform Lymphangiomatosis	Pericardial effusion, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepato...	ORPHA:464329
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr...	ORPHA:85212
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt...	ORPHA:77259
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Death in infancy, Intrauterine growth retardation, Death in childhood	OMIM:615440
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re...	ORPHA:254892
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal amyotrophy, Distal sensory impairment	OMIM:607734
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Prolonged bleeding time, Abs...	OMIM:301000
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h...	ORPHA:210136
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Ataxia, Dilated cardiomyopathy, Ragged-red muscle fibers, Slurred speec...	ORPHA:1349
Propionic Acidemia	Hepatomegaly, Pancytopenia, Dystonia, Thrombocytopenia, Cerebellar hemorrhage, Hyperammonemia, Ca...	OMIM:606054
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase	ORPHA:663
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Action tremor, Calcaneovalgus deformity, Slurred speech, Obesit...	ORPHA:93952
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Acute Promyelocytic Leukemia	Abnormal bleeding, Bone marrow hypercellularity, Pancytopenia, Epistaxis, Diffuse alveolar hemorr...	ORPHA:520
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Cardiomegaly, Incre...	OMIM:617022
Tufted Angioma	Megakaryocytopenia, Petechiae, Thrombocytopenia, Anemia, Purpura	ORPHA:1063
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles...	OMIM:302800
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Ragged-red musc...	OMIM:607426
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Ataxia...	OMIM:214500
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death	OMIM:611890
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th...	ORPHA:324636
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Myopathy, Thrombocytopenia	ORPHA:169090
Tularemia	Brain abscess, Confusion, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, M...	ORPHA:3392
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Scoliosis, Thrombocytopenia, Camptodactyly	OMIM:619751
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nu...	OMIM:615578
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Choreoathetosis, Lower limb hypertonia, Type 1 muscle...	ORPHA:319514
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Elevated circulating creatine kinase concentration, Tremor, Proximal amyotrophy, Upper limb muscl...	ORPHA:209335
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Ataxia, Postural tremor, Tapered f...	OMIM:301072
Coenzyme Q10 Deficiency, Primary, 4	Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De...	OMIM:612016
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Clonus, Small thenar eminence, Distal lower limb muscle weakness, Tendon ruptur...	OMIM:620080
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Ataxia, Elevated circulating creatine kinase concentration, Tr...	OMIM:164310
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Dystonia, Rhizomelia, Ataxia, Tremor, Flexion contracture, Opisthotonus, Chore...	OMIM:616271
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ...	OMIM:603553
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Dilated c...	ORPHA:70595
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Chanarin-Dorfman Syndrome	Myopathy, Ataxia, Hepatic steatosis, Hepatomegaly	OMIM:275630
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib...	OMIM:601462
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Subarachnoid hemorrhage, Hemiplegia, Decreased proportion of CD4-positive helper T ...	OMIM:243700
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Muscle-Eye-Brain Disease	Myopathy, Hypertonia, Elevated circulating creatine kinase concentration, Hemiplegia/hemiparesis	ORPHA:588
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Patent ductus arter...	OMIM:616866
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Involuntary movements, Babinski sign, Clumsiness, Athetosis, Distal amyotrophy, Fiber typ...	OMIM:271245
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Ataxia, Hyperlordosis, Decreased proportion of CD4-positive helper T cells, Abnormal T cell subse...	ORPHA:221139
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Situs inversus totalis, Ureteral atres...	OMIM:208540
Sandhoff Disease	Skeletal muscle atrophy, Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Impair...	OMIM:268800
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept...	OMIM:614300
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Talipes ...	ORPHA:98915
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Weakness of facial musculature, Ataxia	OMIM:618637
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Tapered finger, Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fibe...	OMIM:612949
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,...	OMIM:608931
Aicardi-Goutieres Syndrome 5	Spasticity, Flexion contracture, Thrombocytopenia	OMIM:612952
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Eosinophilia, Hand muscle weakness, Tremor, Intrinsic hand muscle at...	ORPHA:99965
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Vacuolated lymphocytes...	OMIM:230000
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia, Hypomimic face	OMIM:128235
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho...	ORPHA:36238
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Kyphoscoliosis, Tremor, Flexion...	OMIM:300055
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Chédiak-Higashi Syndrome	Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Sple...	ORPHA:167
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Flexion contracture, Dystonia, Spasticity	ORPHA:77260
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci...	ORPHA:97290
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Spastic...	OMIM:619170
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Neu...	OMIM:232220
Immunodeficiency 9	Myopathy, Failure to thrive, Hypoplasia of the thymus	OMIM:612782
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Anemia, Abnormality of th...	ORPHA:298
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tapered finger, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Dista...	OMIM:616505
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome	OMIM:269920
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,...	OMIM:614034
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:268
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Hyperammonemia, Choreoa...	ORPHA:289916
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Failure to thrive, Pancytopenia, Femur fracture, Facial palsy, Sandwich appearance ...	OMIM:259700
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Kyphosis, Slurred speech, Abnormal form of...	ORPHA:812
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ...	OMIM:618935
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, Fasciculatio...	OMIM:313200
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Breath-Holding Spells	Cyanosis	OMIM:607578
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration s...	ORPHA:137898
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, EM...	OMIM:601419
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc...	OMIM:612126
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no...	ORPHA:543
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Impaired distal tactile sensati...	OMIM:182410
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc...	ORPHA:540
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Leber Optic Atrophy	Postural tremor, Myopathy, Ataxia, Dystonia	OMIM:535000
Biemond Syndrome Type 2	Microphthalmia, Short stature, Delayed puberty	ORPHA:141333
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Hypertonia, ...	ORPHA:2388
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Axial Osteomalacia	Myopathy, Polycystic liver disease, Elevated circulating creatine kinase concentration	OMIM:109130
Spinocerebellar Ataxia, Autosomal Recessive 20	Hepatomegaly, Ataxia, Kyphoscoliosis, Splenomegaly, Babinski sign, Spasticity, Macroglossia, Tali...	OMIM:616354
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Cardiomyopathy, EMG...	OMIM:609286
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb muscle weakness	ORPHA:97229
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Progressive psychomotor deterioration, Mac...	ORPHA:251004
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Lymphopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Flexio...	OMIM:617591
Hypermanganesemia With Dystonia 2	Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Elevated circulating creati...	OMIM:617013
Neonatal Lupus Erythematosus	Abnormal bleeding, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thrombocytopeni...	ORPHA:398124
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation...	ORPHA:309854
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Hyperammonemia, Choreoath...	ORPHA:27
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con...	ORPHA:732
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia, Hy...	OMIM:618049
Sézary Syndrome	Skeletal muscle atrophy, Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte...	ORPHA:3162
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoa...	OMIM:261640
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gestational ag...	OMIM:260400
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Facial hyperostosis,...	OMIM:176920
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Anemia, Irritability, Hematuria, Thrombocytopenia	ORPHA:69077
Acquired Purpura Fulminans	Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb...	ORPHA:49566
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Abnormality of the ...	ORPHA:206594
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Ataxia, Involunt...	ORPHA:506
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th...	ORPHA:229717
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thr...	ORPHA:90045
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Barth Syndrome	Cyclic neutropenia, Dilated cardiomyopathy, Neutropenia, Hypochromic microcytic anemia, Skeletal ...	OMIM:302060
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Abno...	ORPHA:349
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating creatinine concent...	OMIM:608104
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, Increased varia...	OMIM:615595
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Alg8-Cdg	Hyponatremia, Ataxia, Small for gestational age, Thrombocytopenia, Macroglossia, Ascites, Talipes...	ORPHA:79325
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Bone marrow maturation arrest, Anemia, Neutropen...	OMIM:617475
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Myasthenic Syndrome, Congenital, 6, Presynaptic	Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy	OMIM:254210
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Mmep Syndrome	Microphthalmia	ORPHA:3434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Prolonged bleeding time, Decreased calvarial ossification, Bruising susceptibility	OMIM:616229
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Leukop...	OMIM:620210
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Myopathy, Cardiom...	OMIM:617713
Atypical Juvenile Parkinsonism	Resting tremor, Dystonia, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, ...	ORPHA:391411
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Ataxia, Gait ataxia	OMIM:613077
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Dystonia, Involuntary movements, Chorea, Dilated cardiomyopathy, Paroxysmal dyski...	OMIM:606703
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Ivic Syndrome	Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, Hypoplasia of the ulna, L...	OMIM:147750
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Hypolysinemia, Splenomegaly, Thrombocytopenia, Increased c...	OMIM:222700
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Giant cell hepatitis, Ventricular septal defect, Small for gestational age, He...	OMIM:208085
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Bone marrow hypercellulari...	ORPHA:98849
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot...	OMIM:606002
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Congenital hepatic fibrosis, Chronic kidney diseas...	ORPHA:3156
Adrenomyodystrophy	Myopathy, Failure to thrive, Hepatic steatosis	ORPHA:977
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g...	OMIM:261750
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice, Leukopenia,...	ORPHA:91547
H Syndrome	Abnormality of the kidney, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Micropenis, En...	ORPHA:168569
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228302
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Carcinoid Syndrome	Myopathy, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Abnormal B-type natriuretic pe...	ORPHA:100093
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Hemivertebrae, Scoliosis, Failure to thr...	ORPHA:370079
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp...	ORPHA:70594
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate excretion in ur...	OMIM:252920
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Cor triatrium sinister, Ventricular septal defect, Dex...	OMIM:618280
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare...	OMIM:615924
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Abnormal heart morphology, Hep...	ORPHA:505248
Refsum Disease, Classic	Short fourth metatarsal, Somatic sensory dysfunction, Ataxia, Cardiomegaly, Elevated circulating ...	OMIM:266500
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Ascites, Anemia	ORPHA:2123
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Cantu Syndrome	Ovoid vertebral bodies, Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomega...	OMIM:239850
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis	OMIM:607721
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Prolonged bleeding time, Osteomalacia, Osteoporosis, Rickets	ORPHA:1901
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Spleno...	OMIM:615895
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk...	ORPHA:99828
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Tremor, Babinski sign, Impaired distal vibration sensation, Spastic para...	OMIM:616586
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopeni...	OMIM:605432
Cog8-Cdg	Skeletal muscle atrophy, Ataxia, Spontaneous hematomas, Prolonged prothrombin time, Myoclonus, Fa...	ORPHA:95428
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Dystonia, Ataxia, Small for gestational age, Hyperammonemia, Type 2 musc...	OMIM:615471
Cystinosis	Portal hypertension, Abnormal pyramidal sign, Myopathy, Hypokalemia, Hypophosphatemia, Failure to...	ORPHA:213
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Congenital Fibrinogen Deficiency	Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble...	ORPHA:335
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Hypoadrenocorticism, Familial	Hyponatremia, Cyanosis, Hyperkalemia	OMIM:240200
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Small hand, Spastic diplegia, Ta...	OMIM:619980
Hyperekplexia 4	Respiratory failure	OMIM:618011
Cofs Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1466
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Elevated ci...	OMIM:254940
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Clinodact...	ORPHA:3068
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Increased circulating interferon-gamma concentration, Respi...	ORPHA:563
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hypertonia, Scoliosis, ...	OMIM:619737
Boutonneuse Fever	Increased circulating IgG level, Respiratory failure, Increased circulating IgM level, Leukopenia...	ORPHA:83313
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellul...	ORPHA:47612
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Lim...	OMIM:183090
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Spasticity, Failure to thrive, Thrombocytopenia	ORPHA:67048
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Ventricular se...	ORPHA:263297
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Thoracic scoliosis, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foo...	OMIM:610185
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Thrombocytopenia, Jaundice, Patent ductus ...	ORPHA:290
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun...	OMIM:613179
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Cirrhosis	OMIM:613987
Braddock-Carey Syndrome 2	Megakaryocytopenia, Thrombocytopenia	OMIM:619981
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration...	OMIM:201475
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Choreoathetosis, Hyperton...	ORPHA:17
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Ataxia, Hyperlordosis, Paten...	ORPHA:354
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive...	ORPHA:1020
Melas	Abnormal central motor function, Ataxia, Dilated cardiomyopathy, Ragged-red muscle fibers, Concen...	ORPHA:550
Roifman Syndrome	Hip contracture, Short metacarpal, Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal...	OMIM:616651
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Dysesthesia, Babinski sign, Limb ataxia, Gait ataxia, Clumsiness, Cardiomyo...	OMIM:619259
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Hermansky-Pudlak Syndrome 8	Bruising susceptibility, Impaired platelet aggregation	OMIM:614077
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I...	ORPHA:1473
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Small for gestational age, Coxa valg...	OMIM:301056
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Myopathy, Cardiomyopathy, Tongue fasciculations, Myoclonus, Hepatic steatosis	OMIM:614922
Mevalonic Aciduria	Normocytic hypoplastic anemia, Ataxia, Failure to thrive in infancy, Elevated circulating creatin...	OMIM:610377
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Ataxia, Splenomegaly, Cirrhosis, Failure to thrive, Limb hypertonia	OMIM:613489
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Tremor, EMG: myopathic abnormalities, Overlapping toe	ORPHA:457365
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Cholangiocarc...	ORPHA:465508
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Ba...	OMIM:234200
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Ragged-...	OMIM:614924
Noonan Syndrome 12	Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Lymphopenia, Thrombo...	OMIM:618624
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinus calcaneus, Rhabdomyolysis, Babinski sign, Cholestasis, Card...	ORPHA:746
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia	OMIM:617106
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ...	OMIM:620133
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Hyp...	OMIM:128100
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho...	ORPHA:319487
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Musculocontractural Ehlers-Danlos Syndrome	Abnormal bleeding, Decreased muscle mass, Abnormal heart valve morphology, Cervical kyphosis, Kyp...	ORPHA:2953
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Thrombocytopenia, Increas...	ORPHA:158048
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisop...	ORPHA:35858
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Generalized amyotrophy...	ORPHA:572798
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ...	ORPHA:261476
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Prol...	ORPHA:2330
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fingers, Thenar ...	OMIM:612394
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of di...	ORPHA:280365
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt...	ORPHA:240103
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno...	ORPHA:2686
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Sandal gap, Tremor, Kyphosis, Small hand, Gait ataxia, Short foot, ...	OMIM:300354
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Nephrocalcinosis, Renal Fanconi...	OMIM:276700
Farber Disease	Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Short...	ORPHA:333
Thrombocytopenia 1	Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate...	OMIM:313900
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Kearns-Sayre Syndrome	Cardiomyopathy, Sideroblastic anemia, Ragged-red muscle fibers, Ataxia	OMIM:530000
Vici Syndrome	Atrial septal defect, Lymphopenia, Elevated circulating creatine kinase concentration, Dilated ca...	OMIM:242840
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia	OMIM:200995
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal...	OMIM:211600
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating cr...	OMIM:614576
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Myocarditis,...	ORPHA:829
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom...	OMIM:606003
Mirage Syndrome	Hyponatremia, Petechiae, Rocker bottom foot, Radial club hand, Thrombocytopenia, Patent ductus ar...	OMIM:617053
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Cachexia, Small hand, Elbow flexion contracture, Spastic tetrapl...	ORPHA:371364
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
Familial Isolated Hypoparathyroidism	Myopathy, Hypocalcemia	ORPHA:2238
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Tremor, Hand tremor,...	OMIM:277900
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ...	OMIM:233910
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of...	ORPHA:1358
Hypotonia-Cystinuria Syndrome	Failure to thrive, Ragged-red muscle fibers, Facial palsy, Hypocalcemia	OMIM:606407
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep...	OMIM:304790
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tapered finger, Tremor, Long fingers, Flexion contracture, 2-3 toe synda...	OMIM:218000
Tay-Sachs Disease	Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Dystonia, Lower limb muscl...	ORPHA:845
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Facial pals...	ORPHA:297
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur...	OMIM:210000
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Myocarditis, Lymphadenopathy, Tubulointerstitial nephritis, Ne...	ORPHA:139402
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase c...	OMIM:620326
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept...	OMIM:203300
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased...	OMIM:133100
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Clonus, Splenomegaly, Leu...	OMIM:259720
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Anemia	OMIM:620296
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Incoordination, Small for gestational age, De...	OMIM:277380
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Congenital Myopathy 9A	EMG: myopathic abnormalities, Obesity, Tongue fasciculations	OMIM:618822
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Preeclampsia	Thrombocytopenia, Abnormality of the hepatic vasculature	ORPHA:275555
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Idiopathic Camptocormia	Myositis, Parkinsonism, Elevated circulating creatine kinase concentration, Fatty replacement of ...	ORPHA:1320
Smith-Kingsmore Syndrome	Rhizomelia, Diastasis recti, Large for gestational age, Short proximal phalanx of finger, Thrombo...	OMIM:616638
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt...	ORPHA:3243
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge...	OMIM:613812
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opisth...	OMIM:608013
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly	ORPHA:79128
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility, Osteoporosis	OMIM:613075
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexi...	OMIM:619183
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Small for gestational age, Absent thumb, Absent radius, ...	OMIM:227645
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Mgat2-Cdg	Abnormal bleeding, Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Decrea...	ORPHA:79329
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Cyanotic episode, Hyperglycinemia, Hyposerinemia	ORPHA:284417
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Tremor, Paral...	ORPHA:79102
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Proximal amyotrophy, Mitral valve prolapse, Bruising susceptibility, M...	OMIM:606408
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinas...	OMIM:614298
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, L...	ORPHA:93552
Prolidase Deficiency	Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Increased circulating antibody level, Pr...	OMIM:170100
Beta-Thalassemia Intermedia	Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inad...	ORPHA:231222
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip...	ORPHA:168572
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Rhizomelia, Failure to thrive in infancy, Kyphoscoliosis, Thrombocytopenia, G...	OMIM:611209
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradykinesia, Myoclonus, T...	OMIM:137440
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici...	OMIM:301074
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Hyperhomocystinemia, Normoch...	OMIM:614857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co...	OMIM:613150
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, Hypertonia, Atrial septal defect, Thrombocytopenia	OMIM:620184
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Coxa valga, Thoracolumbar kyphosis, Splenomegaly, Patent ductus arteriosus,...	OMIM:230600
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia	OMIM:304700
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Cardiorespiratory arrest	ORPHA:280785
Encephalopathy, Ethylmalonic	Death in infancy, Elevated circulating butyrylcarnitine concentration, Acrocyanosis, Petechiae	OMIM:602473
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abnormal...	ORPHA:773
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Cardiomy...	OMIM:251000
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rhabdom...	ORPHA:79095
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Ventricular septal defect, Small for gestational age, Decreased fi...	OMIM:616897
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin time, Hepatic bridging f...	OMIM:618641
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Ataxia, Situs inversus totalis, Thiamine-respons...	OMIM:249270
Shigellosis	Hyponatremia, Failure to thrive in infancy, Abscess, Myocarditis, Leukocytosis, Rhabdomyolysis, P...	ORPHA:810
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Stage 5 chronic kidney disease, Enlarged kidney, ...	ORPHA:79259
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn...	ORPHA:466768
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Rickets, Cholestasis,...	ORPHA:79303
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Thrombocyto...	ORPHA:731
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Spasticity, Hyperammonemia, Ascite...	OMIM:614702
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra...	OMIM:213600
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Hypertonia, Scoliosis, Spasticity, Failure to thrive, Thrombocytopenia	OMIM:616577
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Wide capital femoral epiphyses, Small for gestational age, Lumbar hyperlordosis, Ovo...	ORPHA:1830
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin...	ORPHA:1328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated circulating creatine...	OMIM:616538
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory failure, Iron ...	ORPHA:99931
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Hypochloremia, Hypokalemia, In...	OMIM:241200
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney, Splenic cyst	OMIM:618188
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Small for gestational age, Ventricular septal defect, Ext...	OMIM:617021
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Limb hypertonia	OMIM:617162
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Tremor, Abnormal heart morphology, Spasticity, Broad thumb, Brac...	OMIM:300978
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Micromelia, Coxa var...	ORPHA:800
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul...	OMIM:613989
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Hypertriglyceridemia, Myopathy, ...	ORPHA:79086
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ...	ORPHA:94093
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Cyanosis	OMIM:250800
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involuntary movements, Elevated circulating...	ORPHA:480864
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Failure to thrive, Abnormal pulmon...	ORPHA:974
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase...	ORPHA:264580
Immunodeficiency 92	Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope...	OMIM:619652
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Ataxia, Pericardial effusion, Tremor, Kyphosis, Flexion contracture, ...	OMIM:212065
Scleromyxedema	Myopathy, Elevated circulating creatine kinase concentration, Abnormal skeletal muscle morphology	ORPHA:167635
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti...	OMIM:277450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase...	ORPHA:79240
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Abnormal b...	ORPHA:684
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Congenital Enterovirus Infection	Abnormal bleeding, Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocardit...	ORPHA:292
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Xanthinuria, Type I	Myopathy, Hyperxanthinemia	OMIM:278300
Wolfram Syndrome	Gastrointestinal hemorrhage, Ataxia, Abnormal mesentery morphology, Myopathy, Cardiomyopathy, Anemia	ORPHA:3463
Tricuspid Atresia	Cyanosis	ORPHA:1209
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Ovoid vertebral bodies, Splenomegaly, Kyphosis, Genu valgum, Mac...	ORPHA:583
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Congenital Pulmonary Lymphangiectasia	Growth delay, Cyanosis	ORPHA:2414
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Elevate...	OMIM:612953
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Elevated circulating creatine kinase concentratio...	OMIM:615356
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Leukocytosis, Acute leukemia, Lymphadenopathy	ORPHA:99812
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Buerger Disease	Acrocyanosis	ORPHA:36258
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Peric...	OMIM:615846
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Glycogen Storage Disease Xv	Scapular winging, Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance	OMIM:613507
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Flexion contracture, Scoliosis, Decreased body weight	OMIM:278760
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Anemia, Death in childhood	OMIM:615838
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Pseudo-Torch Syndrome 1	Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Patent ductus arteriosus, Dystonia, Spasticity, ...	OMIM:251290
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Tremor, Abnormality of the spleen, Scoliosis, Clinodactyly of the 5th fi...	ORPHA:94063
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H...	OMIM:602782
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morpholo...	ORPHA:324410
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Cirrhotic Cardiomyopathy	Abnormal bleeding, Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlar...	ORPHA:57777
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s...	ORPHA:47
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance...	OMIM:619036
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Myoclonus, Spastici...	ORPHA:442835
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien...	OMIM:618278
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Ataxia, Gastrointestinal hemorrhage, Cachexia...	ORPHA:3452
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b...	OMIM:300908
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Respirator...	OMIM:607625
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Osteolytic defects of the pha...	OMIM:228000
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, ...	OMIM:618440
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Impaired ...	ORPHA:31150
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Vestibular areflexia, Ataxia	ORPHA:886
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Facial hypotonia, Ataxia, Spastic paraplegia, Genu valgum, Hepatosplenomegaly, Macr...	ORPHA:309282
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Recon Progeroid Syndrome	Skeletal muscle atrophy, Arachnodactyly, Proximal placement of thumb, Thrombocytopenia, Long thum...	OMIM:620370
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Mogs-Cdg	Atrial septal defect, Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Dystoni...	ORPHA:79330
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Scoliosis, Limb dystonia, Atrial septal defect, Spastic...	ORPHA:457351
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion contracture, Macroglo...	ORPHA:258
Majeed Syndrome	Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra...	ORPHA:77297
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Hyperechogenic pancreas...	OMIM:617941
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Combined Oxidative Phosphorylation Deficiency 32	Kyphoscoliosis, Tremor, Spasticity, Choreoathetosis, Dystonia, Joint contracture	OMIM:617664
Presynaptic Congenital Myasthenic Syndromes	Ataxia, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Art...	ORPHA:98914
Congenital Myasthenic Syndrome	Ataxia, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Art...	ORPHA:590
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Kyphoscoliosis, Patent ductus arteriosus, Myopathy, Talipes equinovarus,...	OMIM:614557
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val...	ORPHA:363705
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, Abnormal pyramida...	OMIM:248500
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Thymoma, Proximal amyotrophy	OMIM:159400
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia...	ORPHA:319218
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr...	OMIM:618733
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoplasia of the musculature, Dila...	ORPHA:231226
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr...	ORPHA:99147
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defe...	OMIM:274000
Schimke Immunoosseous Dysplasia	Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Thrombocyt...	OMIM:242900
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Throm...	OMIM:224230
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Endocarditis, Lymphade...	ORPHA:549
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy...	ORPHA:99845
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Alg12-Cdg	Hyponatremia, Sandal gap, Proximal placement of thumb, Long fingers, Muscular ventricular septal ...	ORPHA:79324
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru...	OMIM:232200
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Cachexia, Intracranial hemorrhage, Myopathy, Scoliosis, Broad thumb, Sub...	ORPHA:109
Bacterial Toxic-Shock Syndrome	Myositis, Abscess, Elevated circulating creatine kinase concentration, Myocarditis, Peritonitis, ...	ORPHA:36234
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome...	OMIM:251880
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:83469
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Then...	ORPHA:2463
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired vibratory sensation, Abnormal bleeding, Decreased muscle mass, Thoracic scoliosis, Thora...	ORPHA:1900
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ...	ORPHA:169105
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:231111
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Caroli Syndrome	Abnormal bleeding, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertens...	ORPHA:480520
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ataxia, Chorea, Ragged-red muscle fibers, Dilated cardiomyopathy, Low plasma citrul...	ORPHA:255210
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Primary Pulmonary Hypoplasia	Hypoxemia, Intrauterine growth retardation, Cyanosis, Increased circulating surfactant protein level	ORPHA:2257
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati...	OMIM:300972
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Ataxia, Splenomegaly, Ragged-red muscle fibers, Babinski s...	OMIM:252010
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Vocal cord...	ORPHA:99956
Takenouchi-Kosaki Syndrome	Overlapping toe, Ataxia, Proximal placement of thumb, Tapered finger, Increased mean platelet vol...	OMIM:616737
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Diamond-Blackfan Anemia 1	Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropenia, Atrial sept...	OMIM:105650
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Hypoplasia of the musculature, Anem...	ORPHA:231214
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys...	ORPHA:811
Congenital Myopathy 17	Overlapping fingers, Overlapping toe, Failure to thrive in infancy, Tapered finger, Myopathy, Dis...	OMIM:618975
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor...	OMIM:127550
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Congenital Heart Block	Intrauterine growth retardation, Cyanosis	ORPHA:60041
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ...	ORPHA:116
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Proximal femoral epip...	OMIM:162300
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature	OMIM:606744
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl...	OMIM:252500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhos...	ORPHA:404454
Kagami-Ogata Syndrome	Atrial septal defect, Hepatomegaly, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, C...	OMIM:608149
Immunodeficiency 40	Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell prolifer...	OMIM:616433
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Limited mobility of proximal interpha...	OMIM:222300
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Bronchiectasis, Respiratory ...	ORPHA:244
Sanjad-Sakati Syndrome	Small hand, Short foot, Myopathy, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Gaucher Disease	Elevated circulating C-reactive protein concentration, Tremor, Abnormal bleeding, Hepatomegaly, A...	ORPHA:355
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Immunodeficiency 22	Decreased circulating IgG level, Abscess, Anemia, Decreased circulating total IgM, Decreased circ...	OMIM:615758
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Atrial se...	ORPHA:124
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto...	OMIM:613990
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Atrial septal defect, Paten...	OMIM:245600
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	OMIM:300863
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Hereditary Xanthinuria	Myopathy, Hypouricemia, Hyperxanthinemia	ORPHA:3467
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Noonan Syndrome	Abnormal bleeding, Hepatomegaly, Abnormality of the spleen, Abnormality of the lymphatic system, ...	ORPHA:648
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Erythema, Growth delay, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Blue Rubber Bleb Nevus	Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, ...	ORPHA:51
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Thrombocytopenia, Tremor, Abnormal pyram...	OMIM:612199
Pseudohypoparathyroidism Type 1A	Calcinosis, Short stature, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalce...	ORPHA:79443
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Small for gestational age, Petechiae, Elevated circulating C-rea...	ORPHA:90051
Hypermanganesemia With Dystonia 1	Hepatomegaly, Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin...	OMIM:613280
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Sialuria	Hepatomegaly, Splenomegaly, 2-3 toe syndactyly, Poor fine motor coordination, Macroglossia, Scoli...	OMIM:269921
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Ataxia, Cardio...	OMIM:618143
Hurler-Scheie Syndrome	Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interphal...	OMIM:607015
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Hypoesthesia, Ragged-red muscle fibers...	OMIM:603041
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo...	ORPHA:244242
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Decreased circulating total IgM, Restrictive v...	ORPHA:420741
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Myopathy, ...	ORPHA:3042
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Alg1-Cdg	Respiratory failure	ORPHA:79327
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyoc...	ORPHA:423
Alpha-N-Acetylgalactosaminidase Deficiency	Clonus, Cardiomegaly, Tetraplegia, Scoliosis, Spasticity	ORPHA:3137
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure	ORPHA:1194
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Hemochromatosis, Type 1	Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinem...	OMIM:251100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Pediatric-Onset Graves Disease	Hepatomegaly, Tremor, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:525731
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Hepatomegaly, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Th...	OMIM:613385
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Mental deterioration, Cardiomegaly	OMIM:619051
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	OMIM:610842
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Japanese Encephalitis	Hyponatremia, Skeletal muscle atrophy, Neutrophilia, Weakness due to upper motor neuron dysfuncti...	ORPHA:79139
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Card...	OMIM:105210
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Rickets, Ac...	OMIM:607765
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic diplegia, Hyperammonemia, Choreoat...	ORPHA:391428
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Cor pulmonale, Lymph node hypoplasia, T lymphocytopenia, B ly...	OMIM:300755
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Congenital kyphoscoliosis, Bicuspid aortic valve, Arachnodactyly, Dextro...	ORPHA:536545
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive in infancy, Splenomegaly, ...	OMIM:219800
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Petechiae, Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Purpura	OMIM:225750
Pseudo-Torch Syndrome 2	Hepatomegaly, Petechiae, Cerebral hemorrhage, Ascites, Thrombocytopenia	OMIM:617397
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Anemia, Inc...	ORPHA:77261
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature	OMIM:300887
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Re...	OMIM:617052
Wolcott-Rallison Syndrome	Hepatomegaly, Renal insufficiency, Chronic kidney disease, Iron deficiency anemia, Lymphocytosis,...	ORPHA:1667
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia	ORPHA:3322
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp...	ORPHA:2020
Bresek Syndrome	Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619064
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Respiratory failure, Neonatal death, Pulmonar...	OMIM:616482
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Localized Scleroderma	Skeletal muscle atrophy, Sclerosis of finger phalanx, Flexion contracture, Myopathy	ORPHA:90289
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Ataxia, Thrombocytopenia, Weight loss	ORPHA:79242
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Generalized amyotrophy, Weakness of facial mu...	OMIM:602668
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis	ORPHA:330012
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Myopath...	OMIM:307030
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Thrombocytopen...	OMIM:600901
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive...	OMIM:256040
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Stromme Syndrome	Accessory spleen, Myopathy, Preaxial polydactyly	OMIM:243605
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, T...	ORPHA:50918
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accu...	ORPHA:365
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,...	OMIM:620306
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma	OMIM:253250
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level, Subcutaneous hemorrhage	ORPHA:448237
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia, Purpura	ORPHA:3204
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Cholelithiasis, T...	OMIM:263700
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Dias...	OMIM:253220
Sialuria	Hepatomegaly, Prolonged prothrombin time, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Noonan Syndrome 4	Abnormal bleeding, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Scoli...	OMIM:610733
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, Hypoalbuminemia, Neopla...	ORPHA:171
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,...	ORPHA:99027
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Anemia, Hypophosphatemia, Failure to thriv...	OMIM:239200
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Failure to thrive in infancy, Short proximal phalanx of...	ORPHA:261323
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Leukocyte Adhesion Deficiency	Abnormal bleeding, Acute myeloid leukemia, Polycythemia, Perianal abscess, Leukocytosis, Peritoni...	ORPHA:2968
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula...	OMIM:613154
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure, Bone marrow hypocellularity, Infection associated neutropenia,...	ORPHA:445038
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Thrombocytopen...	OMIM:227650
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Leukopenia, Abnorma...	ORPHA:1304
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomy...	OMIM:300967
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis	OMIM:612852
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Lymphatic Filariasis	Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym...	ORPHA:2035
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Pneumonia, Abscess, Chronic...	ORPHA:125
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Hepatomegaly...	OMIM:614162
Niemann-Pick Disease Type C	Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ...	ORPHA:646
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, A...	ORPHA:247598
Nephroblastoma	Hematuria, Nephroblastoma, Lymphadenopathy	ORPHA:654
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Ne...	ORPHA:391673
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Subconju...	OMIM:617718
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Micromelia, Splenomegaly, Flared metaphysis, Vertebral hypopl...	OMIM:602557
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Triphalangeal thumb, EMG: myopathic a...	ORPHA:2549
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Megakaryocyte dysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone...	ORPHA:508542
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Acute Radiation Syndrome	Abnormal bleeding, Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Vexas Syndrome	Macrocytic anemia, Megakaryocyte dysplasia, Thrombocytopenia	OMIM:301054
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Double Outlet Right Ventricle	Cyanosis, Short stature, Hypocalcemia	ORPHA:3426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo...	ORPHA:93323
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Hemiplegia/hemiparesis...	ORPHA:579
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Growth delay, Acrocyanosis	OMIM:614407
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Para...	ORPHA:2072
1P36 Deletion Syndrome	Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the s...	ORPHA:1606
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating...	ORPHA:159
Q Fever	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn...	ORPHA:781
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ataxia, Spastic hemiparesis, Leukocytosis, Dilated cardiomyopat...	ORPHA:20
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Secund...	OMIM:608779
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, P...	OMIM:610505
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Mucopolysaccharidosis Type 3	Hepatomegaly, Vocal cord paresis, Ataxia, Cardiomegaly, Avascular necrosis of the capital femoral...	ORPHA:581
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Irritabilit...	OMIM:615873
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Low plasma citrulline, Cyanosis	OMIM:261680
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Small for gestational age, Elevated circulating creatine kinase concen...	OMIM:618775
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged prothrombin...	OMIM:214950
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombo...	ORPHA:37042
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Metaphyseal ...	OMIM:613320
Adams-Oliver Syndrome 5	Syndactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Right ...	OMIM:616028
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculomotor apraxia, Distal low...	ORPHA:240094
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Ataxia-Telangiectasia	Lymphopenia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Slurred speech...	OMIM:208900
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Prolonged prothrombin time, Thr...	OMIM:212750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger syndactyly, Pat...	OMIM:603467
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Hereditary Bullous Dystrophy, Macular Type	Growth delay, Acrocyanosis, Short stature	ORPHA:1867
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura	OMIM:235400
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Hurler Syndrome	Hepatomegaly, Cerebral palsy, Abnormal heart valve morphology, Camptodactyly of finger, Abnormali...	ORPHA:93473
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Lujo Hemorrhagic Fever	Resting tremor, Elevated circulating C-reactive protein concentration, Excessive bleeding after a...	ORPHA:319213
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenome...	ORPHA:77293
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Jaundice, Flexion contracture, Hypertonia, Clinodactyly of the 5th finger, Hypoproteinemia	OMIM:608093
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Listeriosis	Brain abscess, Pericarditis, Somatic sensory dysfunction, Ataxia, Liver abscess, Abscess, Tremor,...	ORPHA:533
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Abnormal bleeding, Hepatomegaly, Abnormal ci...	ORPHA:470
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thriv...	OMIM:619418
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocyt...	ORPHA:71493
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Preaxial hand polydactyly, ...	OMIM:227646
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Decreased circulating total IgM,...	OMIM:612301
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin tim...	ORPHA:30391
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Gaucher Disease, Type Ii	Hepatomegaly, Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Failure...	OMIM:230900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Renal artery aneurysm, Splenomegaly, Leukocytosis, Dilated cardiomyop...	OMIM:615688
Papillorenal Syndrome	Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o...	OMIM:120330
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Thr...	OMIM:254900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis...	ORPHA:391487
Tetrasomy 5P	Postnatal growth retardation, Cyanosis	ORPHA:3309
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time, Jaundice	OMIM:616483
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Dy...	ORPHA:340
Atelis Syndrome 2	Thrombocytopenia, Patent ductus arteriosus, Kyphosis, Dysmetria, Supravalvar pulmonary stenosis, ...	OMIM:620185
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Patent ductus arteriosus, Fascicula...	OMIM:620327
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cutaneous syndactyly, Hypocalc...	OMIM:601005
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leuk...	ORPHA:32960
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Cli...	OMIM:618056
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest	ORPHA:26791
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Cornelia De Lange Syndrome 1	Ventricular septal defect, Micromelia, Congenital diaphragmatic hernia, Proximal placement of thu...	OMIM:122470
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty...	OMIM:620072
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neutropenia, Neonatal death, Respiratory ...	OMIM:617248
Ivic Syndrome	Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis, Radioulnar synost...	ORPHA:2307
Niemann-Pick Disease, Type C1	Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Gait ataxia,...	OMIM:257220
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:3378
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo...	OMIM:557000
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Abnormal circulating protein concentration	ORPHA:747
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Congenital Erythropoietic Porphyria	Abnormal bleeding, Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Ost...	ORPHA:79277
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610125
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Rhabdomyosarcom...	ORPHA:647
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit...	ORPHA:131
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature	ORPHA:3191
Exercise-Induced Malignant Hyperthermia	Abnormal bleeding, Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hy...	ORPHA:466650
Crimean-Congo Hemorrhagic Fever	Leukopenia, Increased circulating IgG level, Cholecystitis, Ecchymosis, Internal hemorrhage, Hepa...	ORPHA:99827
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Fanconi Anemia, Complementation Group B	Aplastic anemia, Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Bilateral rad...	OMIM:300514
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect, Flexion contracture, Spasticity, Clinodactyly of...	OMIM:147791
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,...	ORPHA:1517
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Stage 5 chronic kidney dise...	OMIM:249100
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt...	ORPHA:699
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Thrombocytopenia	OMIM:611126
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys...	OMIM:277400
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Cockayne Syndrome Type 1	Hepatomegaly, Lower limb spasticity, Foot joint contracture, Ataxia, Tremor, Scoliosis, Increased...	ORPHA:90321
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma	OMIM:212550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Increased mean platelet volume, Pat...	ORPHA:487796
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D...	OMIM:312870
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Tremor, ...	ORPHA:904
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Osteogenesis Imperfecta	Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor...	ORPHA:666
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ...	ORPHA:2137
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Impaired pain sensation, Kyphosis, Increased fe...	OMIM:619005
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Rift Valley Fever	Abnormal bleeding, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatitis, Melena...	ORPHA:319251
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia	ORPHA:1572
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Prolonged prothrombin time, Macrovesicu...	OMIM:613070
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Small ...	OMIM:619573
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Somatic sensory dysfunction, Chronic active hepatitis, Chorea, Bilia...	ORPHA:289390
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Kallmann Syndrome-Heart Disease Syndrome	Growth delay, Cyanosis, Short stature, Delayed puberty	ORPHA:2326
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, Prolonged prothrom...	OMIM:619525
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Proximal placement of thumb, Kyphosis, Dilated cardiomyopathy, Increas...	ORPHA:261250
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Mitral valve prolapse, Hilar lymph node ...	OMIM:620233
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Jaundice, Dilated cardio...	ORPHA:79282
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Lathosterolosis	Hepatomegaly, Toe syndactyly, Intrahepatic cholestasis, Postaxial hand polydactyly, Anisopoikiloc...	ORPHA:46059
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema...	OMIM:203780
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Rhabdomyolysis, Ragged-r...	OMIM:124000
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Depression, Lymphadenopathy, Leukopenia, ...	ORPHA:536
Leptospirosis	Hepatomegaly, Pericarditis, Jaundice, Rhabdomyolysis, Hepatitis, Retinal hemorrhage, Lymphadenopa...	ORPHA:509
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal...	ORPHA:2969
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Graft Versus Host Disease	Hemophagocytosis, Irritability, Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Large for gestational age, Tremor, Patent ductus arteriosus, Cho...	OMIM:614080
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Serotonin Syndrome	Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus	ORPHA:43116
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature	OMIM:147250
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy	ORPHA:33276
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature	ORPHA:2505
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Fanconi Anemia, Complementation Group I	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Myocarditis, Chorea, Coombs-positive hemolytic anemia, Microangi...	ORPHA:464343
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time, Ascites, Cirrhosis, Jaundice	OMIM:617049
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Hennekam-Beemer Syndrome	Mastocytosis, Pneumonia, Respiratory insufficiency	ORPHA:2135
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute...	ORPHA:29073
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Mitral valve calcification, Decreased body weight, Coxa valg...	OMIM:182250
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Reynolds Syndrome	Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary cirrhosis,...	OMIM:613471
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Alternating Hemiplegia Of Childhood	Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,...	ORPHA:2131
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo...	OMIM:607944
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Death in infancy, Cyanosis, Hypokalemia, Death in childhood	OMIM:618426
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron...	OMIM:619991
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio...	ORPHA:508
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro...	ORPHA:331235
Monosomy 18P	Microphthalmia, Short stature	ORPHA:1598
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Clonus, Elevated circulating creatine kinase concentration, Intraventr...	OMIM:619055
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,...	ORPHA:99750
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand...	ORPHA:3103
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Le...	OMIM:615530
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Di...	ORPHA:71212
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Microform Holoprosencephaly	EMG: myopathic abnormalities, Tetralogy of Fallot, Scoliosis	ORPHA:280200
Mucolipidosis Type Ii	Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Kyphosis, Knee ...	ORPHA:576
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ...	ORPHA:447753
Alexander Disease	Ataxia, Facial palsy, Clonus, Hyperlordosis, Tremor, Kyphosis, Chorea, Abnormal pyramidal sign, T...	ORPHA:58
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Familial Tumoral Calcinosis	Splenomegaly, Calcification of muscles, Hepatomegaly	ORPHA:53715
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Ventricular septal defect,...	ORPHA:163979
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Cervical lymphadenopathy...	ORPHA:2331
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Enlarged ...	ORPHA:2298
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Elevated circulating creatinine concentration	OMIM:617478
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5...	ORPHA:158687
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Short stature	OMIM:602361
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia	ORPHA:496641
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati...	OMIM:610199
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Chylopericardium, Ly...	ORPHA:538
Yellow Fever	Abnormal bleeding, Acute pancreatitis, Neutrophilia, Excessive bleeding after a venipuncture, Hem...	ORPHA:99829
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased serum zinc, Failure to thrive	OMIM:201100
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele, Growth delay	OMIM:614424
Poems Syndrome	Pericardial effusion, Lymphadenopathy, Thrombocytosis, Polycythemia, Visceromegaly	ORPHA:2905
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sandal gap, Rhabdomyosarcoma, 2-3 toe syndactyly, T lymphocytopenia,...	OMIM:251260
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Short stature	ORPHA:369891
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Vertebral segmentation defect, Atrial septal defect, Hepatoblast...	ORPHA:373
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Calci...	ORPHA:97289
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation	OMIM:206920
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Marden-Walker Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:248700
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, Ataxia, Jaund...	ORPHA:90062
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis	OMIM:619580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Lowe...	ORPHA:97297
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thumb, Atrial sept...	ORPHA:84
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Waardenburg Syndrome Type 3	Acrocyanosis	ORPHA:896
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Hennekam Syndrome	Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney,...	ORPHA:2136
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Nocardiosis	Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Nonproductive co...	ORPHA:31204
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Inflammatory myopathy	ORPHA:221
Micro Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:2510
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Abnorm...	ORPHA:235
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a...	OMIM:617913
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Proteus Syndrome	Hallux valgus, Finger syndactyly, Decreased muscle mass, Thymus hyperplasia, Macrodactyly, Cachex...	ORPHA:744
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, ...	ORPHA:2785
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Small for gestationa...	ORPHA:84064
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Arachnodactyly, Abnormality of the ...	ORPHA:567
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Temtamy Syndrome	Microphthalmia	OMIM:218340
Ethylene Glycol Poisoning	Cyanosis, Hyperkalemia, Hypocalcemia	ORPHA:31826
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Cervical hemivertebrae, Impaired pain sensation...	OMIM:619004
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Choanal Atresia	Cyanosis	ORPHA:137914
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ...	ORPHA:75565
Classical Ehlers-Danlos Syndrome	Osteopenia, Ecchymosis, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphol...	ORPHA:980
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Growth delay, Acrocyanosis, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:223900
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Scorpion Envenomation	Acute pancreatitis, Hemifacial spasm, Ataxia, Increased circulating NT-proBNP concentration, Trem...	ORPHA:466677
Moebius Syndrome	Microphthalmia	OMIM:157900
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Behçet Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Ataxia, Splenomegaly, Abnormal pyramidal sig...	ORPHA:117
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Coccidioidomycosis	Pericarditis, Renal insufficiency, Abscess, Eosinophilia, Abnormality of the kidney, Abnormality ...	ORPHA:228123
Dpagt1-Cdg	Hepatomegaly, Arachnodactyly, Ataxia, Tremor, Flexion contracture, Intracranial hemorrhage, Hyper...	ORPHA:86309
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Abnormality of cytokine secretion	ORPHA:567983
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia	OMIM:616920
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Macular degeneration, Vesicoureteral reflux, Lympha...	ORPHA:1571
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ge...	OMIM:269700
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Pulmonary Arteriovenous Malformation	Hypoxemia, Cyanosis, Telangiectasia	ORPHA:2038
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Weight loss, Anemia, Neutropenia, Abnormal myocardium morphology, Pa...	ORPHA:537
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Weight loss, Abnormal ...	ORPHA:36426
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Monosomy 13Q34	Hypercalcemia, Epistaxis, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hemato...	ORPHA:96168
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Lymphadenopathy, Weight loss, Abnormality of the extraocular ...	ORPHA:79078
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Criss-Cross Heart	Cyanosis	ORPHA:1461
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Familial Pancreatic Carcinoma	Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Familial Mediterranean Fever	Pericarditis, Proteinuria, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, N...	ORPHA:342
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation	OMIM:613451
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Short toe, An...	ORPHA:2308
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Arthrogryposis multiplex congenita, ...	ORPHA:163746
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Pulmonic stenosis, Hydronephrosis	ORPHA:100078
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Pulmonary Capillary Hemangiomatosis	Hypoxemia, Cyanosis	ORPHA:199241
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Generalized muscular appear...	OMIM:608594
Sarcoidosis	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Eosinophilia, Thrombocytopenia, Increased T ...	ORPHA:797
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly, Short stature	OMIM:619148
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature	OMIM:612530
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia	ORPHA:96191
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu...	ORPHA:3384
Familial Dysautonomia	Growth delay, Hyponatremia, Acrocyanosis	ORPHA:1764
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Joubert Syndrome 21	Apnea, Splenomegaly, Dyspnea, Respiratory failure, Chronic sinusitis	OMIM:615636
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon...	ORPHA:2839
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Eosinophilic Granulomatosis With Polyangiitis	Urticaria, Acrocyanosis, Cutis marmorata, Purpura	ORPHA:183
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:251230
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure	ORPHA:254528
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hype...	OMIM:311250
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema, Anemia	OMIM:613658
Meckel Syndrome 14	Cyanosis	OMIM:619879
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Renal insufficiency, Eosinophilia, Lymphadenopathy	ORPHA:449432
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari...	OMIM:305000
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Tarp Syndrome	Intrauterine growth retardation, Cyanosis	ORPHA:2886
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Pneumonia, Dy...	ORPHA:544482
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:193
Hepatoerythropoietic Porphyria	Abnormal bleeding, Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroi...	ORPHA:95159
Mosaic Trisomy 9	Microphthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:99776
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Clonus, Hypoammonemia, Thrombocytopenia, Kyphosis, Genu valgum, Hypokalemia, Platys...	ORPHA:534
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Postinfectious Vasculitis	Abnormal circulating protein concentration, Palpable purpura, Cutis marmorata, Elevated circulati...	ORPHA:48435
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar...	ORPHA:3380
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Galloway-Mowat Syndrome 3	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:617729
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Martsolf Syndrome 1	Microphthalmia, Short stature	OMIM:212720
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v...	ORPHA:100075
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Arachnodactyly, Subarachnoid hemorrhage, Cardiomegaly, Patent ductus arter...	ORPHA:91387
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Rhizomelia	OMIM:302960
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Cyanosis, Short stature, Hyperlipidemia, Hyperkalemia, Delayed puberty	ORPHA:293987
Noonan Syndrome 1	Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricula...	OMIM:163950
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Anemia	ORPHA:79404
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Short stature	OMIM:115470
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:251300
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Rhizomelia	OMIM:615877
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Respiratory failure	OMIM:300868
Digeorge Syndrome	Ventricular septal defect, Splenomegaly, Thrombocytopenia, Patent ductus arteriosus, Obesity, Hem...	OMIM:188400
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
1Q21.1 Microdeletion Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:250989
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Short stature	OMIM:601675
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Microphthalmia, Lenz Type	Microphthalmia, Short stature	ORPHA:568
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Defective production of NFKB1-dependent cytokines	OMIM:612132
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Bicuspid aortic valve, Mitral atresia, Ataxia, Small for gestational age, Increased hep...	OMIM:220111
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Tremor, Splenomegaly...	ORPHA:667
Cousin Syndrome	Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia	OMIM:260660
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Esophageal Atresia	Growth delay, Cyanosis	ORPHA:1199
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Pitt-Hopkins Syndrome	Growth delay, Acrocyanosis, Postnatal growth retardation	ORPHA:2896
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema...	ORPHA:556
Fraser Syndrome 2	Respiratory failure, Hypoplasia of the thymus	OMIM:617666
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Acrocyanosis, Cutis marmorata	OMIM:259900
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Neoplasm of the thymus, Leukocytosis, Depression, Memory impair...	ORPHA:99889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine...	OMIM:223370
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature	ORPHA:464
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:364577
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis	OMIM:617239
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Microphthalmia, Syndromic 9	Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ...	OMIM:601186
Atrial Septal Defect, Ostium Primum Type	Cyanosis	ORPHA:99106
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Severe short stature, Rhizomelia	ORPHA:85167
Aspartylglucosaminuria	Hepatomegaly, Abnormal morphology of ulna, Splenomegaly, Macroglossia, Anterior beaking of lumbar...	ORPHA:93
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory failure, Pulmonary a...	ORPHA:96334
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca...	OMIM:187300
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature, Spina bifida	OMIM:234100
Myhre Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:139210
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
Fanconi Anemia, Complementation Group L	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:614083
Steinert Myotonic Dystrophy	Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat...	ORPHA:273
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature, Short stature	OMIM:127000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia, Rhizomelia	OMIM:616300
Histiocytoid Cardiomyopathy	Cyanosis	ORPHA:137675
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Respiratory failure, Decreased circulating IgG level, Secretory IgA deficiency, Emphysema	ORPHA:500150
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel...	OMIM:600376
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of...	ORPHA:3472
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Momo Syndrome	Bilateral microphthalmos, Short stature	ORPHA:2563
Pallister-Hall Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:146510
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial ano...	ORPHA:95430
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Atrial Septal Defect, Coronary Sinus Type	Cyanosis	ORPHA:99104
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Costello Syndrome	Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency	OMIM:218040
Mosaic Variegated Aneuploidy Syndrome	Growth delay, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1052
Primary Hyperoxaluria	Hyperoxaluria, Acrocyanosis, Cutis marmorata	ORPHA:416
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2556
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymp...	ORPHA:90340
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te...	OMIM:610655
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Teebi-Shaltout Syndrome	Microphthalmia, Short stature	OMIM:272950
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Failure to thrive in infancy, Cardiomegaly, Pericardial effusion, Retina...	ORPHA:51608
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine...	ORPHA:93325
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Short stature	OMIM:308300
Fryns Syndrome	Microphthalmia	ORPHA:2059
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Meckel Syndrome	Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:249000
Atrial Septal Defect, Ostium Secundum Type	Cyanosis	ORPHA:99103
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra...	OMIM:133540
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Eosinophilia, Lymphadenopathy	ORPHA:449563
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Delayed menarche, Premature skin wrinkling, Genera...	ORPHA:740
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Eisenmenger Syndrome	Cyanosis, Elevated circulating C-reactive protein concentration, Hypoxemia, Hyperuricemia, Abnorm...	ORPHA:97214
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616975
Unilateral Polymicrogyria	Cyanosis	ORPHA:268943
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia, Intrauterine...	OMIM:256520
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Splenomegaly, Myocarditis,...	ORPHA:3385
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610829
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure	ORPHA:2636
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:620186
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node, Depressi...	ORPHA:707
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:2538
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Short stature	OMIM:268400
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Microphthalmia, Syndromic 2	Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Developmental cataract,...	OMIM:300166
Otopalatodigital Syndrome, Type Ii	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:304120
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2526
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis	ORPHA:99050
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Short stature	OMIM:309801
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Short stature	OMIM:259770
Chikungunya	Depression, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Microphthalmia With Limb Anomalies	Microphthalmia, Short stature, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia, Delayed puberty	ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation	OMIM:612289
Charge Syndrome	Anophthalmia, Short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Intra...	ORPHA:138
Mend Syndrome	Microphthalmia, Short stature	ORPHA:401973
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation	OMIM:608670
Congenital Tracheal Stenosis	Cyanosis	ORPHA:141127
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Cockayne Syndrome Type 3	Microphthalmia, Mild postnatal growth retardation	ORPHA:90324
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Aortic Arch Interruption	Cyanosis	ORPHA:2299
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Cockayne Syndrome	Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia	ORPHA:191
Focal Dermal Hypoplasia	Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ...	OMIM:305600
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Degcags Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:619488
Monosomy 9P	Microphthalmia	ORPHA:261112
Coffin-Lowry Syndrome	Acrocyanosis, Short stature, Cutis marmorata	OMIM:303600
Goodpasture Syndrome	Cyanosis, Increased blood urea nitrogen	OMIM:233450
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Intrauterine growth retardation	OMIM:236680
Fryns Syndrome	Microphthalmia	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:613406
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B...	ORPHA:508488
Charge Syndrome	Anophthalmia, Postnatal growth retardation, Unilateral microphthalmos, Umbilical hernia, Delayed ...	OMIM:214800
Renpenning Syndrome 1	Microphthalmia, Short stature	OMIM:309500
Branchiooculofacial Syndrome	Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt...	OMIM:113620
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:309000
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation	ORPHA:672
Holoprosencephaly 1	Microphthalmia, Short stature	OMIM:236100
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Microphthalmia, Frontal encephalocele, Severe intrauterine growth r...	OMIM:268300
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis	ORPHA:285
Mowat-Wilson Syndrome	Microphthalmia, Short stature	OMIM:235730
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Townes-Brocks Syndrome	Microphthalmia, Short stature, Delayed puberty	ORPHA:857
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Mowat-Wilson Syndrome	Growth delay, Microphthalmia, Short stature	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Short stature	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Short stature	ORPHA:261552
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia	OMIM:309800

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Lymph node - MPATH pathological process term hyperplasia	Stim1^em1(IMPC)Mbp	HET		Early adult
Spleen - MPATH pathological process term hyperplasia	Stim1^em1(IMPC)Mbp	HET		Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Stim1.

No publications found that use IMPC mice or data for Stim1.

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MGI Allele	Allele Type	Produced
Stim1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Stim1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Stim1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Stim1 MGI:107476

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

MicroCT E14.5-E15.5

X-ray

Gross Morphology Embryo E14.5-E15.5

Histopathology

Human diseases caused by Stim1 mutations

Histopathology

IMPC related publications

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