Gene Summary

biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BLOC-1,  BLOC-1 subunit,  Pldn

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
increased circulating serum albumin level Bloc1s6em1(IMPC)Mbp HOM Early adult 7.59×10-06
improved glucose tolerance Bloc1s6em1(IMPC)Mbp HOM Early adult 8.54×10-05
abnormal coat/hair pigmentation Bloc1s6em1(IMPC)Mbp HOM Early adult 4.68×10-15
enlarged spleen Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Bloc1s6em1(IMPC)Mbp HOM   Early adult 5.73×10-05

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

30 Images



14 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Bloc1s6 mutations

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

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

The table below shows human diseases associated to Bloc1s6 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the fundus, Abnormal platelet aggregation, Recurrent skin infecti... OMIM:614171

The table below shows human diseases predicted to be associated to Bloc1s6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal platelet granules, Albinism, Ecchymosis, Abnormal bleeding, Hyp... OMIM:614075
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell activity, Chronic oral candidiasis, Impaired ADP-induced pl... OMIM:608233
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Bruising susceptibility, Restrictive ventilatory defect, Menorrhagia, Al... OMIM:614073
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Glanzmann Thrombasthenia 1
Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impai... OMIM:273800
Glanzmann Thrombasthenia
Impaired thrombin-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... ORPHA:849
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Episcleritis, Cerebral palsy, Proteinuria, Dyspnea, Ataxia, Angioedema, Restricti... ORPHA:36412
Hermansky-Pudlak Syndrome 1
Freckling, Gingival bleeding, Inflammation of the large intestine, Hematochezia, Bruising suscept... OMIM:203300
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Abnormal macrophage morphology, Gait disturbance, Unsteady gait... ORPHA:2585
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Reduced platelet dense granules, Gingival bleeding, Impaired collagen-in... OMIM:619172
Hermansky-Pudlak Syndrome 7
Prolonged bleeding after dental extraction, Bruising susceptibility, Persistent bleeding after tr... OMIM:614076
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ristocetin-induced platelet aggregation, Impai... OMIM:619267
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Bruising susceptibility, Iris transillumination defect, Albinism, Impair... OMIM:614074
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Abnormality of the kidney, Bruising susceptibility, Impaired epinephrine-i... OMIM:155100
Chediak-Higashi Syndrome
Hemophagocytosis, Periodontitis, Silver-gray hair, Spontaneous, recurrent epistaxis, Gait disturb... OMIM:214500
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Onychogryposis of t... OMIM:617294
Netherton Syndrome
Recurrent respiratory infections, Hydronephrosis, Dehydration, Irregular hyperpigmentation, Skin ... ORPHA:634
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Free Sialic Acid Storage Disease
Spasticity, Recurrent respiratory infections, Proteinuria, Iris hypopigmentation, Gait disturbanc... ORPHA:834
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, L... OMIM:613101
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Bruising susceptibility, Albinism, Abnormal bleeding, Hypopigmentation of the ... OMIM:614072
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the fundus, Abnormal platelet aggregation, Recurrent skin infecti... OMIM:614171
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Post-partum he... OMIM:619130
Bronchopulmonary Dysplasia
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, D... ORPHA:70589
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Hermansky-Pudlak Syndrome 8
Blue irides, Hypoplasia of the fovea, Gingival bleeding, Bruising susceptibility, Generalized hyp... OMIM:614077
Hermansky-Pudlak Syndrome
Cataract, Dyspnea, Long eyelashes, Iris hypopigmentation, Bruising susceptibility, Astigmatism, R... ORPHA:79430
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent lower respiratory tract infections, Reduced natural killer cell activity, Recurrent uri... OMIM:615559
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Abnormal fingernail morphology... ORPHA:1164
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Low-set ears, Albinism, Bilateral tonic-clonic seizure, Apnea, ... OMIM:617050
Absent brainstem auditory responses, Hypoventilation, Hirsutism, Hepatosplenomegaly, Long eyelash... ORPHA:79330
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Impaired collagen-induced platelet aggregation,... OMIM:614201
3-Methylglutaconic Aciduria Type 4
Spasticity, Cataract, Iris hypopigmentation, Failure to thrive, Hearing impairment, Seizure, Thro... ORPHA:67048
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis OMIM:103500
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Reduced natural killer ce... OMIM:615707
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Recurrent respiratory infections, Myeloproliferative disorder, Leukocytosis... ORPHA:3226
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Iris hypopigmentation, Ataxia, Generalized hypopigmentation, Hypochromic anemia, Abnorm... ORPHA:2720
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding after dental extraction, Bruising susceptibility, Impaired epinephrine-induced... OMIM:615888
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... ORPHA:79127
Hypoxemia, Abnormal platelet granules, Respiratory distress, Giant platelets, Thrombocytopenia, P... ORPHA:238459
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, S... OMIM:124900
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Gingival bleeding, Bruising susceptibility, Generalized hypopig... ORPHA:352723
Myh9-Related Disease
Proteinuria, Bruising susceptibility, Presenile cataracts, Congenital thrombocytopenia, Renal ins... ORPHA:182050
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Bernard-Soulier Syndrome
Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Gingival bleeding, Prolo... OMIM:231200
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... OMIM:613953
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Colitis, Decr... OMIM:619281
Alpha-1-Antitrypsin Deficiency
Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Splenomegaly, Panacinar emphys... OMIM:613490
Hellp Syndrome
Prolonged prothrombin time, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, ... ORPHA:244242
Bleeding Disorder, Platelet-Type, 8
Bruising susceptibility, Persistent bleeding after trauma, Ecchymosis, Prolonged bleeding after s... OMIM:609821
Vici Syndrome
Albinism, Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recur... OMIM:242840
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Cough, Pancreatitis, Renal insufficiency, Cardiorespiratory arrest, Pu... ORPHA:188
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Proteinuria, Ataxia, Seizure, Thromboc... OMIM:603585
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Pul... OMIM:612387
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal bleeding, Spl... ORPHA:231393
Amyloidosis, Hereditary, Transthyretin-Related
Spasticity, Abnormal pyramidal sign, Limb ataxia, Hemiparesis, Ataxia, Urinary incontinence, Hear... OMIM:105210
Oculocerebral Hypopigmentation Syndrome, Cross Type
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Iris hypopigmentation, Ureteral stenosi... ORPHA:2719
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Anemia, Respiratory insufficiency, Failure to thrive in infancy, Seizure, Emphysema ORPHA:436
Athrombia, Essential
Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding time, Abnormal blee... OMIM:209050
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Atelectasis, Edema, Respiratory distress, Pulmonary edema... OMIM:267450
Griscelli Syndrome
Spasticity, Iris hypopigmentation, Abnormal eyelash morphology, Ataxia, Abnormal eyebrow morpholo... ORPHA:381
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction OMIM:130700
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bili... OMIM:619868
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cardiomegaly OMIM:227150
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Gingival bleeding, Inability to walk, Hemophagocytosis, Large clumps of p... ORPHA:167
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Klippel-Trénaunay Syndrome
Edema, Hydrops fetalis, Respiratory insufficiency, Pulmonary embolism, Microcytic anemia, Tall st... ORPHA:90308
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Failure to thrive, Reduced delayed hypers... OMIM:242700
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Multiple lentigines, Vitiligo, Hypopigmented skin patches, Hypermelanotic macule, Cafe-au-lait sp... OMIM:145250
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... OMIM:193510
Woolly Hair
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... ORPHA:170
Birt-Hogg-Dubé Syndrome
Renal cell carcinoma, Pulmonary sequestration, Abnormality of retinal pigmentation, Emphysema, Pn... ORPHA:122
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Ectopia lentis, Nasal polyposis, Bronchiolitis, Bronchie... OMIM:604571
Bleeding Disorder, Platelet-Type, 21
Menorrhagia, Alopecia, Impaired platelet aggregation, Thrombocytopenia, Impaired ADP-induced plat... OMIM:617443
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Abnormal bleeding, Impaired platelet aggregation,... OMIM:187800
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Waardenburg Syndrome, Type 2E
Blue irides, Aplasia of the semicircular canal, Iris hypopigmentation, Hypoplasia of the semicirc... OMIM:611584
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Wild Type Attr Amyloidosis
Proteinuria, Renal insufficiency, Nephropathy, Nephrotic syndrome, Pulmonary edema, Abnormal pulm... ORPHA:330001
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hemophagocytosis, Aplastic anemia, Fulminant hepatitis, Reduced... OMIM:308240
Infantile spasms, Prominent antihelix, Long eyelashes, Impaired lymphocyte transformation with ph... ORPHA:79329
Mixed Connective Tissue Disease
Myocarditis, Pleuritis, Hemolytic anemia, Keratoconjunctivitis sicca, Gastritis, Pulmonary arteri... ORPHA:809
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Hemolytic anemia, Restrictive ventilatory... ORPHA:1572
Von Willebrand Disease, Type 3
Bruising susceptibility, Persistent bleeding after trauma, Menorrhagia, Joint hemorrhage, Prolong... OMIM:277480
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Riboflavin Transporter Deficiency
Iris hypopigmentation, Progressive hearing impairment, Ataxia, Respiratory insufficiency, Optic d... ORPHA:97229
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Pulmonary bulla, Increased circulating IgE level, Recurrent lowe... OMIM:619632
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage OMIM:618462
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased glomerular filtration rate, Intracranial hemorrhage, Respiratory failure,... ORPHA:340
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Bilateral tonic-clonic seizure, Increased circulating Ig... ORPHA:79139
Infant Acute Respiratory Distress Syndrome
Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumonia, Respiratory fail... ORPHA:70587
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Decreased DLCO, Pulmonary fibrosis, Tubu... OMIM:618913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Inability to walk, Respiratory insufficiency due to muscle weakness, Generalize... ORPHA:2590
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Skin rash, Anemia, Reduced natural killer cell activity, Reduced nat... OMIM:616050
Alpha-1-Antitrypsin Deficiency
Hepatitis, Emphysema, Nephrotic syndrome ORPHA:60
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Bruising susceptibility,... OMIM:614009
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, White forelock, Patchy hypo- and hyperpigmentation OMIM:601706
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Jerky head movements, Difficulty walking, Spastic dysarthria, Impaired proprioceptio... ORPHA:251282
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Bruising susceptibility, Abnormal alpha granule content, Impaired plate... OMIM:601399
Neuroectodermal Melanolysosomal Disease
Spasticity, Recurrent respiratory infections, Aplasia/Hypoplasia of the macula, Ataxia, Premature... ORPHA:33445
Bernard-Soulier Syndrome
Macrothrombocytopenia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced plate... ORPHA:274
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
Wiskott-Aldrich Syndrome
Chronic otitis media, Gingival bleeding, Glomerulopathy, Chronic pulmonary obstruction, Hemolytic... ORPHA:906
Bleeding Disorder, Platelet-Type, 17
Macrothrombocytopenia, Impaired collagen-induced platelet aggregation, Bruising susceptibility, I... OMIM:187900
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
Cocaine Intoxication
Status epilepticus, Focal-onset seizure, Hyperventilation, Colitis, Bilateral tonic-clonic seizur... ORPHA:90068
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Thrombocytopenia, Eczema, Defective T cell proliferation, D... OMIM:614493
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Rod-cone dystrophy, Stage 5 chronic kidney disease, Renal cyst,... OMIM:615993
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... OMIM:607271
Abnormal urinary color, Atelectasis, Multiple renal cysts, Chylopericardium, Pneumothorax, Retina... ORPHA:538
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Impaired collagen-induced platelet aggregation, B... OMIM:139090
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody level, Restri... OMIM:181000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Prolonged prothrombin time, Leukopenia, Edema, Skin rash, Ataxia, Hemophagocy... OMIM:603553
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:256710
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Gingival bleeding, Decreased specific... OMIM:301000
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy OMIM:604765
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, White hair, Abn... ORPHA:79435
Immunodeficiency 81
Recurrent cutaneous abscess formation, Decreased proportion of class-switched memory B cells, Ski... OMIM:619374
Griscelli Syndrome Type 1
Iris hypopigmentation, Ataxia, Premature graying of hair, White hair, Seizure, Partial albinism, ... ORPHA:79476
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Bruising susceptibility, Reduced platelet alpha granules, Incr... OMIM:314050
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Seizure, B... ORPHA:411515
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Focal impaired awareness seizure, Abnormal head movements, Bilateral tonic-clonic seizure... ORPHA:382
Ethylene Glycol Poisoning
Tachypnea, Decreased urine output, Ataxia, Renal insufficiency, Cerebral edema, Gastritis, Renal ... ORPHA:31826
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Inflammation of the large intestine, Ataxia, Pulmonary hypoplasia... OMIM:619708
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output, Skin rash, Hypoxemia, Pulmonary edema, Respiratory f... ORPHA:542323
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Ataxia, Astigmatism, Vestibular hypofunction, Abnormal cochlea m... ORPHA:231183
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Anemia, Facial edema, Respirator... OMIM:617300
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Immunodeficiency 48
Eczematoid dermatitis, Recurrent respiratory infections, Failure to thrive, Splenomegaly, Panhypo... OMIM:269840
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Seizure, Emphysema OMIM:210050
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Recurrent otitis media, P... OMIM:608971
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells, Stomatitis, Emphysema OMIM:618307
Von Willebrand Disease, Type 1
Prolonged bleeding after dental extraction, Bruising susceptibility, Persistent bleeding after tr... OMIM:193400
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pancreatitis, Hypoxemia, Abnormal blood gas level, Pulmonary edema, Pneumonia, Respirato... ORPHA:70578
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Gingival bleeding, Prolonged bleeding after den... OMIM:153670
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema, Elevated pulmonary artery pressure OMIM:178400
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Usher Syndrome Type 1
Cataract, Iris hypopigmentation, Ataxia, Vestibular hypofunction, Abnormal cochlea morphology, Se... ORPHA:231169
Bilateral tonic-clonic seizure with generalized onset, Hypertonia, Pneumonia ORPHA:1083
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly OMIM:118830
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Leukocyte Adhesion Deficiency
Peritonitis, Leukocytosis, Polycythemia, Chronic oral candidiasis, Impaired platelet aggregation,... ORPHA:2968
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Hypo... ORPHA:999
Hemochromatosis, Type 1
Hepatocellular carcinoma, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Alopecia, Cirrhosis, H... OMIM:235200
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding OMIM:608404
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Maculopapular exanthema, Hemophagocytosis, Skin rash, Anemia, Bruising... ORPHA:540
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Distal sensory impairment, Dyspnea, Aspiration pneumonia, Inability to walk, Somatic sensory dysf... ORPHA:90117
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Cardiomyopathy,... OMIM:613752
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Alopecia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Ascites ORPHA:100025
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... OMIM:247800
Hemochromatosis, Type 2B
Elevated transferrin saturation, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Cirrhosi... OMIM:613313
Oculocutaneous Albinism
Hypoplasia of the fovea, Iris hypopigmentation, Iris coloboma, Hypopigmentation of the fundus, Ge... ORPHA:55
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Sensorineural hearing impairment, Optic disc hypoplasia, Failure to thrive OMIM:609528
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding OMIM:173420
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Spasticity, Recurrent respiratory infections, Gait disturbance, Ataxia, Premature graying of hair... ORPHA:100
Fabry Disease
Glomerulopathy, Chronic pulmonary obstruction, Hearing impairment, Conjunctival telangiectasia, P... ORPHA:324
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, ... OMIM:612526
Pleuritis, Abnormality of the kidney, Chronic pulmonary obstruction, Intracranial hemorrhage, Dys... ORPHA:1163
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Jerky head movements, Somatic sensory dy... ORPHA:240103
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism ORPHA:2786
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Seizur... OMIM:619466
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Tetrapa... OMIM:613179
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad... OMIM:603552
Maculopapular exanthema, Nephrocalcinosis, Hemolytic anemia, Keratoconjunctivitis sicca, Upper ai... ORPHA:797
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Griscelli Syndrome Type 2
Jaundice, Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Hepatomegaly, Hyper... ORPHA:79477
Huntington Disease-Like 1
Frequent falls, Jerky head movements, Gait disturbance, Simultanapraxia, Clumsiness, Abnormal hea... ORPHA:157941
Splenoportal Vascular Anomalies
Hyperammonemia, Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous sys... OMIM:271500
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
X-Linked Sideroblastic Anemia
Anemia, Hyperpigmentation of the skin, Glucose intolerance, Abnormality of iron homeostasis, Sple... ORPHA:75563
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Freckling, Abnormal macular morphology, Iris hypopigmentation, Astigmati... ORPHA:54
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... ORPHA:199241
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity, Synophrys, Hepatomegaly, Coarse hair, Hirsutism, Ca... OMIM:252920
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Spasticity, Low-set ears, Subretinal pigment epithelium hemorrhage, Thick hair, Failure to thrive... ORPHA:357074
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Widow's peak, Febrile seizure (within the age range of 3 months... OMIM:266265
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Joint hemorrhage, Impaired platelet aggregation, Intestinal bleeding, Me... OMIM:605735
Idiopathic Achalasia
Bronchitis, Cough, Recurrent aspiration pneumonia, Wheezing, Weight loss ORPHA:930
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Aspiration pneumonia, Rigidity, Hearing... OMIM:619057
Scorpion Envenomation
Myocarditis, Hyperkinetic movements, Paresthesia, Acute kidney injury, Mydriasis, Edema, Ataxia, ... ORPHA:466677
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy... OMIM:607685
Leukocytosis, Increased circulating antibody level, Skin rash, Cough, Anemia, Respiratory distres... ORPHA:3392
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Skin rash, Anemia, Abnor... ORPHA:229717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... OMIM:601457
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Atelectasis, Cough, Chronic rhinitis, Recurrent lower respiratory ... OMIM:616726
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Conjugated hyperbilirubinemia, Hypopigmentation of the skin... OMIM:269920
Quebec Platelet Disorder
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Thr... OMIM:601709
De Barsy Syndrome
Cataract, Recurrent sinopulmonary infections, Low-set ears, Abnormal fundus fluorescein angiograp... ORPHA:2962
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Atelectasis, High-frequency hearing impairment, Recurrent bronchitis, Otitis m... OMIM:300455
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Weight loss ORPHA:141152
Autoerythrocyte Sensitization Syndrome
Superficial dermal perivascular inflammatory infiltrate, Edema, Abnormal erythrocyte morphology, ... ORPHA:324636
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Chronic lu... OMIM:617514
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Erythema nodosum... OMIM:614700
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Spastic tetraplegia, Ataxia, Polyhydramnios, Epileptic spasm, Seizure, Myoclonus, Erratic myoclon... OMIM:619971
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Carcinoma Of Esophagus
Dysphagia, Lymphadenopathy ORPHA:70482
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin... ORPHA:79431
Hemochromatosis, Type 4
Elevated transferrin saturation, Impaired glucose tolerance, Anemia, Diabetes mellitus, Cardiomyo... OMIM:606069
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... OMIM:615294
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, T lymphocytopenia, Pneumonia, Nail dystrophy, Abnormally low T cell receptor e... OMIM:618806
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Low-set, posteriorly rotated ears, Prolonged bleeding time, Abnormal... ORPHA:638
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Peritonitis, Pleuritis, Productive cough, Respiratory failure, Pneumothorax, Cutaneous abscess, D... ORPHA:31204
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Dyspnea, Atopic dermatitis, Leukocytosis, Atelectasis, Restrictive ventilatory... ORPHA:2902
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding OMIM:188025
Bartter Syndrome, Type 2, Antenatal
Paresthesia, Dehydration, Small for gestational age, Nephrocalcinosis, Hyperchloriduria, Hyperald... OMIM:241200
Ellis Van Creveld Syndrome
Abnormal hair quantity, Aplasia/Hypoplasia of the lungs, Nail dysplasia, Abnormality of the kidne... ORPHA:289
Ogden Syndrome
Aspiration, Polycystic kidney dysplasia, Polycythemia, Enlarged kidney, Protruding ear, Bilateral... OMIM:300855
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Ulcerative c... OMIM:617638
Sitosterolemia 1
Episodic hemolytic anemia, Reticulocytosis, Anemia, Arthritis, Giant platelets, Abnormal bleeding... OMIM:210250
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Decreased specific anti-polysaccharide antibody level, Decrease... OMIM:300853
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Anemia, Abnormal circulating IgG leve... OMIM:226990
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Dyspnea, Pulmonary venous hypertension, Pulmonary edema, Periph... ORPHA:75249
Congenital Tracheomalacia
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... ORPHA:95430
Rigid Spine Syndrome
Respiratory insufficiency, Waddling gait, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Loeys-Dietz Syndrome 4
Torticollis, Bruising susceptibility, Tall stature, Emphysema, Pneumothorax, Flat cornea, Eosinop... OMIM:614816
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Simpson-Golabi-Behmel Syndrome, Type 2
Neonatal respiratory distress, Recurrent respiratory infections, Low-set ears, Recurrent lower re... OMIM:300209
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Low-set ears, Chronic bronchitis, Decreased circulating IgA leve... OMIM:614069
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Respiratory insufficiency, Corneal opacity, Microcornea, Large ... ORPHA:2432
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Riddle Syndrome
Enuresis nocturna, Chronic sinusitis, Respiratory failure, Conjunctival telangiectasia, Gait dist... ORPHA:420741
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Cupped ear, Hearing abnormality, Myoclonus, Microtia ORPHA:1352
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Jaundice, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis,... OMIM:267700
Meier-Gorlin Syndrome 4
Low-set ears, Breast hypoplasia, Failure to thrive, Emphysema, Microtia OMIM:613804
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Macs Syndrome
Decreased body weight, Bruising susceptibility, Recurrent aphthous stomatitis, Alopecia, Palpebra... OMIM:613075
Whim Syndrome
Limb ataxia, Vitiligo, Atelectasis, Severe periodontitis, Lymphadenitis, Lymphopenia, Respiratory... ORPHA:51636
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Lymphadeno... ORPHA:858
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Hypertrigl... ORPHA:158061
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Pulmonary edema, Increased circulating gonadotropin level, Hi... ORPHA:64739
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Pneumonia OMIM:254120
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Prolonged prothrombin time, Hyperkinetic movements, Dehydration, Cataract, Leukopenia... OMIM:616271
Essential Thrombocythemia
Paresthesia, Acute leukemia, Abnormal platelet morphology, Prolonged bleeding time, Splenomegaly,... ORPHA:3318
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, ... OMIM:253240
Hemochromatosis, Type 2A
Cardiomyopathy, Hepatomegaly, Cirrhosis, Hyperpigmentation of the skin, Increased serum iron, Dil... OMIM:602390
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Torticollis, Ataxia ORPHA:71518
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Seizure, Conductive hearing impairment, Pneumonia ORPHA:85179
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail, Abnormal lympho... ORPHA:2584
Albinism, Ocular, Type I
Depigmented fundus, Hypoplasia of the fovea, Ocular albinism, Giant melanosomes in melanocytes OMIM:300500
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Delayed onset bleeding, Join... ORPHA:98879
Albinism, Oculocutaneous, Type Ia
Blue irides, Hypoplasia of the fovea, Astigmatism, Albinism, White hair, Hypopigmentation of hair... OMIM:203100
Mitochondrial Complex I Deficiency, Nuclear Type 33
Spasticity, Small for gestational age, Aspiration pneumonia, Status epilepticus, Respiratory insu... OMIM:618253
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased... OMIM:620010
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Atelis Syndrome 1
Cataract, Irregular hyperpigmentation, Leukopenia, Anemia, Decreased lymphocyte proliferation in ... OMIM:620184
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Pseudohypoparathyroidism Type 1A
Myoclonic spasms, Cataract, Paresthesia, Dyspnea, Elevated calcitonin, Abnormal platelet function... ORPHA:79443
Factor V Deficiency
Prolonged prothrombin time, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, P... OMIM:227400
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Depigmented fundus, Iris hypopigmentation, Generalized hypo... ORPHA:352731
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Recurrent respiratory infections, Unsteady gait, Frontal balding, Micropenis, Hand t... ORPHA:3041
Prader-Willi Syndrome
Impaired pain sensation, Recurrent respiratory infections, Iris hypopigmentation, Micropenis, Poo... OMIM:176270
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity ORPHA:177910
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow morphology, P... ORPHA:3437
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent bacterial sk... ORPHA:217390
1P36 Deletion Syndrome
Abnormality of the kidney, Abnormal eyebrow morphology, Abnormality of the spleen, Hydronephrosis... ORPHA:1606
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Hypoxemia, Oxygen desaturation on exertion, Broad-based gait, Recurrent respiratory ... OMIM:610978
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Chronic pulmonary obstruction, Autoimmune hemolytic anemia, A... OMIM:616576
Obesity And Hypopigmentation
Polyphagia, Red hair, Hepatic steatosis, Hyperinsulinemia OMIM:620195
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated carcinoembryonic antigen level, Oral-pharyngeal d... ORPHA:100083
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Hyperkinetic movements, Hyperaldosteronism, Nephrocalcinosis, Hypermagnesiuria,... ORPHA:73224
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Anasarca, Enlarged kidney, Apnea, Respiratory distress, Pulmonary edema, Seizure, Peric... OMIM:261740
Lujo Hemorrhagic Fever
Myocarditis, Maculopapular exanthema, Leukocytosis, Atelectasis, Fulminant hepatitis, Bilateral t... ORPHA:319213
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoketotic hyp... OMIM:600649
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Gait imbal... ORPHA:411511
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism, Sensorineural hearing impairment ORPHA:1000
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Sea-Blue Histiocyte Disease
Absent axillary hair, Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Abnormal reticulocyte morphology, Macr... OMIM:300835
Dyspnea, Interstitial pneumonitis, Increased circulating antibody level, Respiratory insufficienc... ORPHA:723
Cirrhotic Cardiomyopathy
Conjunctival icterus, Pulmonary edema, Elevated pulmonary artery pressure, Abnormal bleeding, Per... ORPHA:57777
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Small for gestational age, Tachypnea, Slender build, Anasarca... OMIM:613658
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time, Microcytic anemia, Skin rash ORPHA:1059
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Retinal vascular malformation, Iris hypopigmentation, Gingival bleeding,... ORPHA:53719
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... ORPHA:2884
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Anemia OMIM:238700
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Hepatic steatosis, Dilated cardiomyopathy, Hypoalb... OMIM:618805
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... OMIM:618963
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Retinal dystrophy, Inability to walk, Ataxia, Lower limb spasticity, Generalized myoclonic seizur... OMIM:616756
Histiocytoid Cardiomyopathy
Congenital aphakia, Renal cyst, Cough, Megalocornea, Hemiplegia, Failure to thrive, Pulmonary ede... ORPHA:137675
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Recurrent respiratory infections, Small for gestational age, Iris hypopigmentation, Decreased cir... ORPHA:98754
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Focal seizure with eyelid ... ORPHA:139431
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force... ORPHA:1303
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Small for gestational age, Low-set ears, Ataxia, Generalized-onset seizure, Low anter... OMIM:220111
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Overgrowth, Bladder diverticulum, Emphysema, Oligohydramnios OMIM:219100
Huntington Disease-Like 3
Spasticity, Abnormal pyramidal sign, Urinary incontinence, Abnormal head movements, Progressive g... ORPHA:157946
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Iris hypopigmentation, Bilateral tonic-clo... ORPHA:98795
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Ataxia, Tremor, Hypopigmentation of the skin, Hypopigmentation of hair, Ga... ORPHA:98794
Angelman Syndrome
Infantile spasms, Status epilepticus, Iris hypopigmentation, Inability to walk, Ataxia, Astigmati... ORPHA:72
Liver Disease, Severe Congenital
Peritonitis, Status asthmaticus, Hyperinsulinemic hypoglycemia, Nail dystrophy, Poor fine motor c... OMIM:619991
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Noonan Syndrome
Abnormal hair quantity, Low-set, posteriorly rotated ears, Thickened helices, Abnormal platelet f... ORPHA:648
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Recurrent respiratory infections, Small for gestational age, Iris hypopigmentation, Decreased cir... ORPHA:98793
Immunodeficiency 102
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... OMIM:301082
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG2 lev... OMIM:300310
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... ORPHA:79432
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Hydronephrosis, Tracheomalacia, Atelectasis, Pulmonary hypoplasia, Peri... OMIM:613177
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Splenomegaly OMIM:614480
Avian Influenza
Dyspnea, Tachypnea, Acute kidney injury, Leukopenia, Cough, Productive cough, Hypoxemia, Nonprodu... ORPHA:454836
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Recurrent respiratory infections, Small for gestational age, Iris hypopigmentation, Decreased cir... ORPHA:177904
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Decreased proportion of cla... OMIM:615513
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Recurrent respiratory infections, Small for gestational age, Iris hypopigmentation, Decreased cir... ORPHA:177901
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Vesicoureteral reflux, Leukopenia, Conductiv... OMIM:603467
Wolfram Syndrome 2
Neurogenic bladder, Optic neuropathy, Decreased circulating antibody level, Optic atrophy, Sensor... OMIM:604928
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ... ORPHA:60032
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Aspiration pneumonia, Inability to walk, Gait disturbance, Cough, Pig... ORPHA:216866
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment... ORPHA:897
Hurler-Scheie Syndrome
Cardiomyopathy, Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Genera... ORPHA:93476
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... OMIM:618534
Burkitt Lymphoma
Hyperuricemia, Abnormality of the liver, Abnormal lymph node morphology, Abnormality of the splee... ORPHA:543
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... ORPHA:443811
Farber Disease
Atelectasis, Cherry red spot of the macula, Hepatosplenomegaly, Spasticity, Joint swelling, Macul... ORPHA:333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Urinary retention, Bilateral tonic-clonic seizure, Paraplegia, Hepatosplenomegaly, Recurrent resp... ORPHA:79124
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator... ORPHA:2302
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Papillary renal cell carcinoma, Premature graying of hair, Intracranial hem... ORPHA:363618
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... OMIM:616828
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Lymphocytosis OMIM:606445
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Respiratory distress, Pulmonary edema, Pericardial effusion, Ascites OMIM:115197
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue h... OMIM:607616
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent sinopulmonary infections, Chronic sinusitis, Atelectasis, Aspleni... ORPHA:244
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Stomatitis, Skin rash, Recurrent bacterial skin infections, Autoimmune thromb... ORPHA:911
Mohr-Tranebjaerg Syndrome
Abnormal pyramidal sign, Aspiration pneumonia, Inability to walk, Absent brainstem auditory respo... ORPHA:52368
Meier-Gorlin Syndrome 1
Small for gestational age, Long eyelashes, Hyperconvex nail, Micropenis, Low-set ears, Breast hyp... OMIM:224690
Juvenile Neuronal Ceroid Lipofuscinosis
Myoclonic spasms, Parkinsonism, Aspiration pneumonia, Clumsiness, Pigmentary retinopathy, Loss of... ORPHA:79264
Carnitine Deficiency, Systemic Primary
Hyperammonemia, Decreased carnitine level in liver, Cardiomyopathy, Recurrent hypoglycemia, Hepat... OMIM:212140
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Hyperinsulinemia, Hirsutism, Hyperinsulinemic hypoglycemia, Insulin-res... ORPHA:2298
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Cataract, Ataxia, Mixed hearing impairment, Clumsiness, Oligosacchariduria, O... ORPHA:309288
Prader-Willi-Like Syndrome
Recurrent respiratory infections, Small for gestational age, Iris hypopigmentation, Decreased cir... ORPHA:398073
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Small for gestational age, Conductive hearing impairment, Poste... OMIM:616835
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Galactosemia Iii
Jaundice, Hypergalactosemia, Hepatomegaly, Splenomegaly OMIM:230350
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Sparse body hair, Cholestasis, Hepatomegaly, Portal hypertension, Sparse eyebrow, Scarr... ORPHA:59303
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Gait disturbance, Increased body weight, Hand tremor, Synophrys, Cafe-au-lait spot, Recurrent oti... ORPHA:589905
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Glycogen Storage Disease Ixb
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:261750
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Immunodeficiency 23
Hemolytic anemia, Increased circulating IgM level, Cortical myoclonus, Recurrent respiratory infe... OMIM:615816
Oculocutaneous Albinism Type 1B
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Citrullinemia Type Ii
Hepatocellular carcinoma, Abnormal eating behavior, Hypoproteinemia, Hyperactivity, Restlessness,... ORPHA:247585
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hepatic steatosis, Hypoalbuminemia OMIM:619013
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Mucopolysaccharidosis-Plus Syndrome
Long eyelashes, Leukopenia, Enlarged kidney, Atrial septal defect, Anemia, Hypoalbuminemia, Bone ... OMIM:617303
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Periportal fibrosis... OMIM:251880
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Spotty hyperpigmentation, Histiocytosis, Lymphadenopathy ORPHA:157991
Episodic Ataxia Type 4
Frequent falls, Ataxia, Abnormal head movements, Vertigo, Incoordination ORPHA:79136
Immunodeficiency 7
Hypereosinophilia, Vitiligo, Patchy alopecia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... OMIM:615387
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia OMIM:306000
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Cataract, Nail dysplasia, Fibrocystic lung disease, Chronic monilial nail i... OMIM:158310
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Impaired T cell function, Recurrent otitis media, Recurrent pneu... OMIM:240500
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Nail pits, Leukopenia, Ridged nail, Ataxia, Aplastic anemia, Premature graying of hair, ... OMIM:127550
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Cataract, Pyelonephritis, Respiratory insufficiency, Urethral... ORPHA:90349
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Vitiligo, Autoimmune thrombocytopenia, Lym... OMIM:619846
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Agitation, Cardiomyopathy, Hyperalaninemia, Macrocytic anemia, Hyperprolin... OMIM:619046
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Long eyelashes, Synophrys, Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
Transcobalamin Deficiency
Decreased circulating total IgM, Acute kidney injury, Decreased circulating IgA level, Methylmalo... ORPHA:859
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Leukocytosis, Leukopenia, Cough, Hypoxemia, Nonproductive cough, Neutrophilia... ORPHA:36238
Bloom Syndrome
Chronic pulmonary obstruction, Acute lymphoblastic leukemia, Respiratory failure, Nephroblastoma,... ORPHA:125
Edinburgh Malformation Syndrome
Brushfield spots, Low-set ears, Respiratory insufficiency, Synophrys, Low posterior hairline, Fai... ORPHA:1895
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Chronic bronchitis, Decreased circulating IgA level, Reduced natural killer cell co... OMIM:242860
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Partial absence of specific antibody response to Haemophilus influ... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Skin rash, Cough, Recurrent bacterial skin infections, Decreased p... ORPHA:276
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Retinal dystrophy, Unsteady gait, Difficulty walking, Ataxia, Progressive spastic par... ORPHA:464282
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Cholestasis, Ventricular septal defect, Brittle hair, Hepatomegaly, Increase... OMIM:222470
Omenn Syndrome
Leukocytosis, Edema, Anemia, Abnormal lymphocyte morphology, Alopecia, Nephrotic syndrome, Failur... ORPHA:39041
Blue irides, Increased level of hippuric acid in urine, Cataract, Generalized hypopigmentation, S... OMIM:261600
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Dehydration, External ear malformation, S... ORPHA:33110
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased specific antibody response to vaccination, Protruding ear, Decreased circulating total ... ORPHA:221139
Myocarditis, Leukocytosis, Intrarenal abscess, Increased circulating IgM level, Sacroiliac arthri... ORPHA:1304
Inability to walk, Progressive cerebellar ataxia, Acute lymphoblastic leukemia, Recurrent lower r... OMIM:208900
Neonatal Marfan Syndrome
Neonatal respiratory distress, Small for gestational age, Low-set ears, Ectopia lentis, Megalocor... ORPHA:284979
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia OMIM:615008
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Cholestasis, Hypoglycemic seizures, Hyperinsulinemia, Hypopigmentation of the skin, R... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Cholestasis, Hypoglycemic seizures, Hyperinsulinemia, Hypopigmentation of the skin, R... ORPHA:71526
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Microscopic hematuria, Prolonged bleeding after dental extraction, An... ORPHA:325
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bilirubin, De... OMIM:618528
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Nonprogressive cerebellar ataxia, Central sleep apnea, Pancreatitis, Failur... ORPHA:431361
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Inability to walk, Polyhydramnios, Respiratory distress, Pneumo... ORPHA:596
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Low-set ears, Jerky head movements, Nephrocalcinosis, Central sl... ORPHA:369837
Q Fever
Myocarditis, Maculopapular exanthema, Hepatosplenomegaly, Endocarditis, Increased circulating ant... ORPHA:781