Genes Phenotypes Help, News, Blog

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

Gene: Lyst MGI:107448

Gene Summary

Name:

lysosomal trafficking regulator

Synonyms:

D13Sfk13

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased mean corpuscular volume	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.63×10^-05
decreased prepulse inhibition	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.45×10^-05
increased mean corpuscular hemoglobin	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.03×10^-06
decreased locomotor activity	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.35×10^-07
increased fasting circulating glucose level	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.09×10^-05
preweaning lethality, incomplete penetrance	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased grip strength	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.53×10^-06
abnormal iris morphology	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.44×10^-17
abnormal retina morphology	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.40×10^-14
abnormal coat/hair pigmentation	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.53×10^-25

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Combined SHIRPA and Dysmorphology

Images

17 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

Eye Morphology

Images Ophthalmoscopy

14 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Eye Morphology

Images Slit Lamp

11 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Histopathology

Images

2 Images

View images

X-ray

XRay Images Hind Leg and Hip

1 Images

View images

Human diseases caused by Lyst 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 Lyst (3 diseases)
Human diseases predicted to be associated with Lyst (1994 diseases)

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

Disease	Matching phenotypes	Source
Chediak-Higashi Syndrome	Ataxia, Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, ...	OMIM:214500
Chédiak-Higashi Syndrome	Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia,...	ORPHA:167
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Epistaxis, Bruising susceptibility, Ocular albinism, Incoordination, Abnormali...	ORPHA:352723

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

Disease	Matching phenotypes	Source
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Linear Atrophoderma Of Moulin	Linear hyperpigmentation	ORPHA:140933
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Dyschromatosis Universalis Hereditaria 3	Hypermelanotic macule	OMIM:615402
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair	OMIM:606574
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Tietz Albinism-Deafness Syndrome	Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Generalized...	OMIM:103500
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Reduced delayed hypersensitivity, Melanin pigment...	OMIM:607624
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans...	OMIM:619165
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:620199
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Immunodeficiency 20	Severe varicella zoster infection, BCGitis, Recurrent otitis media, Recurrent viral upper respira...	OMIM:615707
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ...	OMIM:616053
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Choroideremia	Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm...	OMIM:303100
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation	OMIM:614493
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Vitelliform-like macular lesions, Retinal nonattachment, Choroideremia	ORPHA:99000
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo...	OMIM:203200
Ataxia, Sensory, 1, Autosomal Dominant	Sensory ataxia, Abnormal cerebellum morphology, Gait ataxia, Positive Romberg sign, Babinski sign...	OMIM:608984
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Candidiasis, Familial, 1	Cutaneous anergy, Alopecia, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ...	ORPHA:423275
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Spastic Paraparesis-Deafness Syndrome	Cataract, Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Sensorineural hea...	ORPHA:2815
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo...	OMIM:275400
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Paraparetic Variant Of Guillain-Barré Syndrome	Recurrent acute respiratory tract infection, Paraparesis, Impaired distal proprioception	ORPHA:231445
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Spasticity, Spastic paraparesis, Difficulty walking, Babinski sign,...	ORPHA:320370
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast...	OMIM:605258
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Cerebellar hypoplasia, Tremor, Ataxia	OMIM:213000
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Macular dystrophy, ...	OMIM:608051
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ...	ORPHA:79433
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre...	OMIM:300400
Hyperkeratosis-Hyperpigmentation Syndrome	Irregular hyperpigmentation, Multiple cafe-au-lait spots	ORPHA:1336
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Deafness, Congenital, With Total Albinism	Albinism, Hearing impairment	OMIM:220900
Woolly Hair	Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr...	ORPHA:170
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Retinopathy	ORPHA:79476
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Uveal ectropion, Optic nerve ...	OMIM:617319
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Spasticity, Dysgenesis of the cerebellar vermis, Hearing impairm...	ORPHA:67048
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o...	ORPHA:352731
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a...	ORPHA:94122
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy...	OMIM:131960
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation	ORPHA:2222
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Hypopigmentation of the skin, Decreased circulating total IgM	OMIM:610798
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d...	ORPHA:363710
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Generalized hyperpigmentation	ORPHA:2297
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Dis...	OMIM:302800
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat...	ORPHA:726
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat...	ORPHA:75376
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Ataxia	ORPHA:99014
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t...	OMIM:613495
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb ataxia, Gait ataxia...	OMIM:615157
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Usher Syndrome Type 1	Iris hypopigmentation, Cataract, Vestibular hypofunction, Sensorineural hearing impairment, Aplas...	ORPHA:231169
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl...	OMIM:613494
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Vestibular hypofunction, Astigmatism, Sensorineural hearing impa...	ORPHA:231183
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation	OMIM:601706
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Acute infect...	ORPHA:60033
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation	ORPHA:2253
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Spinocerebellar Ataxia 6	Cerebellar atrophy, Frequent falls, Incoordination, Vertigo, Dysmetria, Loss of ambulation, Ataxi...	OMIM:183086
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ...	ORPHA:69125
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk...	OMIM:615768
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit...	OMIM:155100
Nystagmus 6, Congenital, X-Linked	Astigmatism, Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Spastic Paraparesis And Deafness	Cataract, Spastic paraparesis, Hearing impairment, Tremor	OMIM:312910
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Dystoni...	OMIM:606693
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail	OMIM:302000
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Progressive Hemifacial Atrophy	Heterochromia iridis, Irregular hyperpigmentation	ORPHA:1214
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infection...	OMIM:300291
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax...	OMIM:248900
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Myh9-Related Disease	Giant platelets, Bruising susceptibility, Prolonged bleeding time, Presenile cataracts, Spontaneo...	ORPHA:182050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab...	ORPHA:89838
X-Linked Spinocerebellar Ataxia Type 4	Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Free Sialic Acid Storage Disease	Iris hypopigmentation, Spasticity, Splenomegaly, Abnormal pyramidal sign, Oculomotor apraxia, Gai...	ORPHA:834
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria, Action tremo...	ORPHA:98762
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr...	ORPHA:314978
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ...	ORPHA:284332
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Ground-glass opacification, Increased circulating IgE level, Ost...	ORPHA:1163
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia	ORPHA:67047
Eem Syndrome	Sparse body hair, Retinopathy, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystr...	ORPHA:1897
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Felty Syndrome	Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph...	ORPHA:47612
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Babinski sign, Vest...	ORPHA:504476
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia	OMIM:615957
Chediak-Higashi Syndrome	Ataxia, Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, ...	OMIM:214500
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, Ab...	ORPHA:101110
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Frontotemporal Dementia With Motor Neuron Disease	Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid...	ORPHA:275872
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Beaten bronze macular sheen, Cone/cone-rod dystro...	OMIM:614500
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Immunodeficiency 51	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu...	OMIM:613953
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Spasticity, Bone marrow hypocellularity, Hypopigmented s...	ORPHA:381
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,...	OMIM:613493
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hypochromic anemia, Hearing impairment, White hair, Ocular albin...	ORPHA:2720
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Friedreich Ataxia	Spasticity, Falls, Hearing impairment, Inability to walk, Chorea, Limb ataxia, Gait ataxia, Inten...	ORPHA:95
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation...	ORPHA:79399
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Sparse hair, Abnormality of retinal pigmentation, Uncombable hair	ORPHA:1264
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II...	OMIM:273800
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr...	OMIM:618394
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ...	ORPHA:275
Epilepsy, Progressive Myoclonic 7	Myoclonus, Cerebellar atrophy, Tremor, Ataxia	OMIM:616187
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of s...	OMIM:251270
Autosomal Recessive Spastic Paraplegia Type 67	Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr...	ORPHA:401820
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Dystonia 23	Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Gait disturbance, Tort...	OMIM:614860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ...	OMIM:613101
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe...	ORPHA:1067
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab...	OMIM:607317
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Recurrent viral infections, Emphysema, Pyoderma, Reduced delayed hypersensit...	OMIM:242700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel...	OMIM:607483
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Hermansky-Pudlak Syndrome 5	Albinism, Epistaxis, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggr...	OMIM:614074
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A...	OMIM:614742
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Paraparesis, Developmental cataract, Developmental glaucoma	ORPHA:101005
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, ...	ORPHA:2585
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Usher Syndrome	Cataract, Abnormal vestibular function, Abnormality of retinal pigmentation, Astigmatism, Sensori...	ORPHA:886
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Recurrent ...	OMIM:619281
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo...	ORPHA:897
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Amyloidosis, Primary Localized Cutaneous, 3	Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment	OMIM:300650
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Hypopla...	OMIM:619172
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Broad-based gait, Inability to walk, Myoclonus, Pontocerebellar atrophy, Dystonia, Cl...	OMIM:617854
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Spastic Ataxia 4, Autosomal Recessive	Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax...	OMIM:613672
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,...	OMIM:613501
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Cerebellar hypoplasia, Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hy...	ORPHA:3240
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem...	ORPHA:98763
Spastic Paraplegia 48, Autosomal Recessive	Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,...	OMIM:613647
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi...	ORPHA:79431
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Aplasia/...	ORPHA:79262
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Tremor, Distal sensory impairment, Fasciculations	OMIM:615048
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Sparse hair	ORPHA:3363
Glanzmann Thrombasthenia 2	Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ...	OMIM:619267
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Atelectasis, Agenesis of corpus callosum, Recurrent respiratory infections, Chron...	OMIM:619466
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia, Recurrent infections	ORPHA:210128
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl, Iris coloboma	ORPHA:168
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab...	OMIM:611302
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Leber Congenital Amaurosis 2	Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Phenylketonuria	Fair hair, Blue irides, Generalized hypopigmentation, Cataract	OMIM:261600
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Vitamin B12-Unresponsive Methylmalonic Acidemia	Tetraparesis, Leukopenia, Macrocytic anemia, Paraparesis, Thrombocytopenia, Ataxia, Anemia, Chore...	ORPHA:27
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst...	OMIM:128230
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Immunodeficiency 81	Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced natural ki...	OMIM:619374
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	ORPHA:411527
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Vertigo,...	ORPHA:3318
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Uv-Sensitive Syndrome 1	Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Spinocerebellar Ataxia 12	Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado...	OMIM:604326
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray...	OMIM:619767
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Xeroderma Pigmentosum, Complementation Group G	Cataract, Spasticity, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Iris coloboma, Ectopia lentis, Abnormality of retinal pigmentation	ORPHA:1259
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Hermansky-Pudlak Syndrome 7	Epistaxis, Bruising susceptibility, Ocular albinism, Prolonged bleeding after dental extraction, ...	OMIM:614076
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy	ORPHA:46487
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ...	OMIM:300636
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ...	ORPHA:1818
Bleeding Disorder, Platelet-Type, 11	Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu...	OMIM:614201
Peroxisome Biogenesis Disorder 8B	Cataract, Spasticity, Spastic paraparesis, Cerebellar atrophy, Tip-toe gait, Cerebellar vermis at...	OMIM:614877
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue...	OMIM:203100
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Progressive spastic paraparesis, Cerebellar atrophy, Spastic tetraparesis	ORPHA:496756
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Progressive...	ORPHA:254343
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	ORPHA:2251
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Myeloid le...	OMIM:614743
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Resting tremor, Falls, Gait...	OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Riboflavin Transporter Deficiency	Iris hypopigmentation, Progressive hearing impairment, Myoclonus, Tremor, Ataxia	ORPHA:97229
Bronchopulmonary Dysplasia	Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis	ORPHA:70589
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ...	ORPHA:1390
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp...	OMIM:620044
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Autosomal Dominant Spastic Paraplegia Type 73	Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib...	ORPHA:444099
Optic Atrophy 3, Autosomal Dominant	Cataract, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism...	OMIM:105550
Non-Syndromic Genetic Deafness	Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine...	ORPHA:87884
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Heimler Syndrome 1	Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinsonism, Scis...	ORPHA:521406
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Premature gray...	OMIM:611584
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop...	ORPHA:3261
Basal Ganglia Calcification, Idiopathic, 1	Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par...	OMIM:213600
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Alopecia, Aplastic anemia, Hearing impairment, Fine hair, Premature ...	OMIM:613990
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm...	OMIM:178500
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Pulmonary Nodular Lymphoid Hyperplasia	Ground-glass opacification, Nodular pattern on pulmonary HRCT, Plasmacytosis	ORPHA:60026
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi...	OMIM:618090
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst, Sensorineural hearing impairment	OMIM:620086
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia...	OMIM:613989
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Bornholm Eye Disease	Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty...	ORPHA:79133
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ...	ORPHA:101077
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren...	OMIM:616726
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis m...	OMIM:300455
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemi...	OMIM:620321
Chédiak-Higashi Syndrome	Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia,...	ORPHA:167
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu...	ORPHA:3214
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Dyskeratosis Congenita, Autosomal Dominant 1	Sparse hair, Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular v...	OMIM:127550
Spastic Paraplegia 75, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Astigmatism, Dysmetria, Loss of ambulation, ...	OMIM:616680
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Pulmonary fibrosis, Honeycomb lung, Premature graying of hair	OMIM:616371
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ...	OMIM:612387
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait...	OMIM:610185
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Cerebellar atrophy, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apra...	OMIM:300423
Retinitis Pigmentosa 46	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower...	OMIM:600363
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C...	ORPHA:98813
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia, Pulmonary fibrosis	OMIM:620400
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:240500
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Spasticity, Ocular albinism, Abnormality of extrapyramidal motor...	ORPHA:2719
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, Lymphaden...	ORPHA:51636
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Diffuse reticular or finely nodular infiltrat...	OMIM:607616
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Leber Congenital Amaurosis 9	Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Attenuation of retinal blood ves...	OMIM:608553
Pulmonary Hemosiderosis	Iron deficiency anemia, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmon...	OMIM:178550
Hermansky-Pudlak Syndrome 2	Low-set ears, Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosple...	OMIM:608233
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado...	OMIM:615386
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology, Nephrotic syndrome, Hand tremor	ORPHA:401835
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo...	OMIM:617145
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Parenchymal c...	ORPHA:2902
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm...	ORPHA:79402
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Self-Improving Dystrophic Epidermolysis Bullosa	Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region	ORPHA:79411
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections	OMIM:608957
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Astigmatism, Cranio...	OMIM:617284
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Alopecia Totalis	Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails	ORPHA:700
Primary Angiitis Of The Central Nervous System	Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Multicystic kidney dysplasia	ORPHA:2111
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia	OMIM:608404
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Ho...	ORPHA:2032
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Developmental And Epileptic Encephalopathy 82	Cerebellar vermis hypoplasia, Spastic paraparesis, Inability to walk, Recurrent infections, Spast...	OMIM:618721
Immunodeficiency 112	Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B...	OMIM:620449
Usher Syndrome Type 2	Iris hypopigmentation, Cataract, Sensorineural hearing impairment, Aplasia/Hypoplasia of the cere...	ORPHA:231178
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop...	OMIM:618935
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function,...	OMIM:615362
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Squamous cell carcinoma of the skin, Lymphopenia, Myelodysp...	OMIM:620365
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Slc35A1-Cdg	Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate...	ORPHA:238459
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Hemolytic anemia, Neutropenia	OMIM:266130
Immunodeficiency 89 And Autoimmunity	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgA level...	OMIM:619632
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At...	OMIM:619028
Retinitis Pigmentosa 56	Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ...	OMIM:613581
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Ground-glass opacification, Lymphocytic interstitial p...	ORPHA:133
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	OMIM:616795
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation	OMIM:613216
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Sensorineural hearing impairment, Developmental cataract, Hypertonia, Adult onset...	ORPHA:1368
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism, Leukopenia, Abnormal platelet aggregation, Thrombo...	OMIM:614171
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten...	OMIM:616959
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia	OMIM:617916
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease...	OMIM:616873
Dystonia 22, Juvenile-Onset	Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ...	OMIM:620453
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei...	OMIM:618913
Diffuse Alveolar Hemorrhage	Ground-glass opacification, Leukocytosis, Pulmonary infiltrates, Hematuria, Proteinuria, Irregula...	ORPHA:90060
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ...	OMIM:618093
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Chronic otitis media, Bruising susceptibility, Verti...	ORPHA:3226
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cerebellar dysplasia, Tremor, Gliosis, Micropenis, Pulmonary fibrosis, Macrotia	ORPHA:457240
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti...	OMIM:617304
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Edinburgh Malformation Syndrome	Hirsutism, Low posterior hairline, Generalized hirsutism, Brushfield spots, Synophrys	ORPHA:1895
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio...	ORPHA:158681
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Spastic Paraplegia 46, Autosomal Recessive	Spastic paraplegia, Cataract, Impaired vibratory sensation, Cerebellar atrophy, Hearing impairmen...	OMIM:614409
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous...	OMIM:618173
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia...	ORPHA:397946
Leber Congenital Amaurosis	Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract	ORPHA:65
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Lower limb spas...	ORPHA:100988
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculom...	ORPHA:453521
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair	ORPHA:1573
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Nail dystrophy, Pustu...	OMIM:615934
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Tip-toe gait, Bradykinesia, Rigidity, Gait disturbance, Oromandibular dyston...	OMIM:615643
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Spastic paraparesis, Hand tremor, Abnormal antihelix morphology, Dysmetria, Protruding ear, Blue ...	ORPHA:3041
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Retinitis Pigmentosa 43	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon...	OMIM:613810
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist...	ORPHA:276435
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia,...	ORPHA:512260
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Hep...	ORPHA:99931
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Dystonia 16	Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait...	ORPHA:210571
Netherton Syndrome	Recurrent infections, Emphysema, Increased circulating IgE level, Recurrent respiratory infection...	ORPHA:634
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Bleeding Disorder, Platelet-Type, 18	Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu...	OMIM:615888
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Intellectual Developmental Disorder, Autosomal Recessive 38	Unsteady gait, Blue irides	OMIM:615516
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Hepatomegaly, Pulmonary f...	OMIM:615704
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Olivopontocerebellar atrophy, Tremor, Babinski sign, Abnormality o...	OMIM:164500
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston...	ORPHA:71517
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat...	OMIM:610978
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at...	OMIM:616719
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi...	ORPHA:43
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90342
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo...	ORPHA:1816
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,...	OMIM:620158
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism	OMIM:300500
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Tonne-Kalscheuer Syndrome	Spasticity, Blue irides, Tremor, Broad-based gait	OMIM:300978
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Iris...	OMIM:614077
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Cerebellar hypoplasia, Limb dystonia, Tremor, Ataxia	OMIM:620270
Spinocerebellar Ataxia 29	Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Truncal titubation, Broad-based gait, C...	OMIM:117360
Neovascular Glaucoma	Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino...	ORPHA:94058
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Ramon Syndrome	Generalized hirsutism, Abnormal anterior chamber morphology, Abnormality of retinal pigmentation	ORPHA:3019
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid...	OMIM:600116
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai...	OMIM:104100
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Myoclonus, Trun...	OMIM:607346
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone...	OMIM:602772
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Lymphoma, Atelectasis, Increased circulating IgE level, Osteomyelitis, Abn...	ORPHA:2314
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology, Sensorineural hearing impairment	ORPHA:2690
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Nephrotic syndrome, Abnormal pulmonary interstitial morphology, Hemophagocyt...	OMIM:619644
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,...	ORPHA:313772
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Lymphopr...	OMIM:300853
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Joubert Syndrome 28	Highly arched eyebrow, Pigmentary retinopathy, Optic disc pallor	OMIM:617121
Spastic Paraplegia 5A, Autosomal Recessive	Spastic paraplegia, Cataract, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria, Im...	OMIM:270800
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Nail dysplasia, Abnormality of skin pigmentation, Recurrent infections, Sparse sc...	OMIM:225050
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai...	OMIM:601705
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso...	OMIM:615528
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Retinal det...	ORPHA:85194
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Impaired vibration sensa...	OMIM:159550
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair, Abnormality of the bladder, Hematuria, Recurrent respiratory in...	ORPHA:1839
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dy...	OMIM:256731
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Reticular hyperpigmentation, Nail dystrophy, Erythroid hypo...	OMIM:618165
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:607594
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tremor, Cerebellar hyp...	OMIM:617810
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia	OMIM:617836
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Adrenoleukodystrophy	Spastic paraplegia, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, Impaired vibration ...	OMIM:300100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Urinary retention, Recurrent respiratory infections, Panh...	ORPHA:79124
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Waardenburg Syndrome, Type 1	Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Thick eyebrow, White...	OMIM:193500
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:3239
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Abnormal renal morphology, Apical pulmonary opacity, Arthra...	ORPHA:449280
Trichothiodystrophy 6, Nonphotosensitive	Microcornea, Broad-based gait, Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA...	OMIM:616943
Alexander Disease	Spasticity, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Microcoria, Ataxia, Pa...	OMIM:203450
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia	OMIM:128235
Wyburn-Mason Syndrome	Iris hypopigmentation, Gingival bleeding, Epistaxis, Hearing impairment, Cerebral palsy, Hemipare...	ORPHA:53719
Porphyria Cutanea Tarda	Hyperpigmentation in sun-exposed areas, Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Hermansky-Pudlak Syndrome 4	Albinism, Hypoplasia of the fovea, Absent platelet dense granules, Ocular albinism	OMIM:614073
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance...	OMIM:210000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Sjögren-Larsson Syndrome	Macular degeneration, Generalized hyperpigmentation, Retinopathy, Abnormality of retinal pigmenta...	ORPHA:816
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Arachnoid Cyst	Mydriasis, Chiari malformation, Tetraparesis, Inability to walk, Vertigo, Abnormal cerebellum mor...	ORPHA:2356
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Pancytopenia, Sparse eyelashes, Hodgkin lymphoma, Acute myeloid leukem...	OMIM:305000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia	OMIM:613839
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ...	ORPHA:79153
Developmental And Epileptic Encephalopathy 97	Inability to walk, Tremor	OMIM:619561
Darier Disease	Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H...	ORPHA:218
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Fusariosis	Ground-glass opacification, Abnormality of the spleen, Lymphopenia, Pulmonary infiltrates, Hemato...	ORPHA:228119
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Athrombia, Essential	Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega...	OMIM:209050
Von Willebrand Disease, Type 3	Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge...	OMIM:277480
Rift Valley Fever	Gingival bleeding, Abnormal bleeding, Vertigo, Retinal hemorrhage, Hemiparesis, Paralysis, Parapa...	ORPHA:319251
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Small nail, Persistence of hemoglobin F, Panc...	OMIM:617052
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Obesity And Hypopigmentation	Red hair	OMIM:620195
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Centrilobular ground-glass opacification on pulmonary HRCT, Eczematoid derm...	ORPHA:79128
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism	ORPHA:370091
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Ataxia, Hy...	ORPHA:411511
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Hsd10 Disease	Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis	ORPHA:391417
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Freckling, Hypoplastic toenails	ORPHA:1547
Hermansky-Pudlak Syndrome 6	Epistaxis, Hypopigmentation of the skin, Bruising susceptibility, Hearing impairment, Ocular albi...	OMIM:614075
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent oti...	OMIM:615518
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cataract	ORPHA:1466
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip...	OMIM:618195
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Myoclonus,...	ORPHA:98794
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit...	ORPHA:364055
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ...	ORPHA:139485
Angelman Syndrome	Broad-based gait, Hypopigmentation of the skin, Fair hair, Clumsiness, Progressive gait ataxia, L...	OMIM:105830
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis, Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas...	OMIM:617241
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Hepatosplenomegaly, Abnormal pleura morphology, Thrombocytopenia, Pu...	ORPHA:210136
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections...	ORPHA:319552
Spastic Paraplegia 20, Autosomal Recessive	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Difficulty walking, Abnormal cerebel...	OMIM:275900
Phenylketonuria	Hypopigmentation of the skin	ORPHA:716
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hemiplegia, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Reduced...	OMIM:603553
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Spinocerebellar Ataxia 27B, Late-Onset	Gait ataxia, Postural tremor, Limb ataxia, Cerebellar atrophy	OMIM:620174
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Spasticity, Pigmentary retinopathy, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal...	ORPHA:98773
Primary Ciliary Dyskinesia	Nasal polyposis, Conductive hearing impairment, Hearing impairment, Atelectasis, Polysplenia, Rec...	ORPHA:244
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy	OMIM:601957
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton...	OMIM:619738
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Mucopolysaccharidosis-Plus Syndrome	Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Renal tubular atrophy, Foc...	OMIM:617303
Mixed Connective Tissue Disease	Nephropathy, Alopecia, Leukopenia, Pleuritis, Splenomegaly, Skin rash, Myositis, Gastritis, Kerat...	ORPHA:809
Specific Granule Deficiency 2	Low-set ears, Recurrent pneumonia, Sepsis, Recurrent otitis media, Hirsutism, Simple ear, Nail dy...	OMIM:617475
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the...	OMIM:600132
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Abnormal...	ORPHA:137898
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Vitreoretinochoroidopathy	Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Skin ...	OMIM:616050
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne...	ORPHA:2590
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Sepsi...	ORPHA:276
Deafness, Autosomal Recessive 103	Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment	OMIM:616042
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo, Hearing impairment	OMIM:221350
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire...	OMIM:139090
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebellar atrophy, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, ...	ORPHA:79263
Braddock Syndrome	Unilateral renal agenesis, Abnormal hair pattern, Overfolded helix, Pulmonary fibrosis, Posterior...	ORPHA:52047
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Immunodeficiency 104	Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple...	OMIM:608971
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria...	ORPHA:93952
Arterial Dissection-Lentiginosis Syndrome	Melanocytic nevus	ORPHA:1682
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Cataract, Spasticity, Abnormal bleeding, Cerebellar atrophy, Leukopenia, Myoclonus, Tremo...	OMIM:616271
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Hypophosphatasia	Emphysema	ORPHA:436
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Recurrent respiratory infections, F...	OMIM:159950
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio...	OMIM:617547
Waardenburg Syndrome Type 3	White hair, Hearing impairment, Atelectasis, Thick eyebrow	ORPHA:896
Myelopathy, Htlv-1-Associated	Spastic paraparesis, Abnormal pyramidal sign	OMIM:159580
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Enuresis nocturna, Bronchitis, D...	ORPHA:420741
Prune1-Related Neurological Syndrome	Low-set ears, Tongue fasciculations, Cataract, Spastic paraparesis, Cerebellar atrophy, Inability...	ORPHA:544469
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga...	OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Dilated fourth vent...	OMIM:183090
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Tremor, Distal sensory impairment, Babinski sign, Steppage gait, Hypertonia	OMIM:609260
Spastic Paraplegia 23, Autosomal Recessive	Multiple lentigines, Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body ...	OMIM:270750
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Adult Krabbe Disease	Abnormal medulla oblongata morphology, Spasticity, Acroparesthesia, Somatic sensory dysfunction, ...	ORPHA:206448
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I...	ORPHA:206443
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:1791
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Purine Nucleoside Phosphorylase Deficiency	Spasticity, Spastic paraparesis, Recurrent respiratory infections, Cerebral palsy, Abnormal centr...	ORPHA:760
Neuhauser Syndrome	Cupped ear, Hypoplasia of the iris, Megalocornea, Large fleshy ears, Iridodonesis, Ataxia, Iris t...	OMIM:249310
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Conductive hearing impairment, Atelectasis, Recurrent bronchitis, Chr...	OMIM:244400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Dysmetria, Abn...	OMIM:238970
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Partial absence of specific antibody...	OMIM:620632
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Chronic mu...	ORPHA:572
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Cerebellar atrophy, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	ORPHA:329284
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia...	ORPHA:906
Microlissencephaly	Pneumonia, Cerebellar atrophy	ORPHA:1083
Usher Syndrome, Type Ie	Congenital sensorineural hearing impairment, Vestibular areflexia	OMIM:602097
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Usual interstitial pneumonia, Increased mean corpuscular volume, Premature graying of hair, Splen...	OMIM:620367
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d...	OMIM:616710
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Hermansky-Pudlak Syndrome 1	Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism, Melanocytic n...	OMIM:203300
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia	OMIM:618587
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Nuclear cataract, Posterior subcapsular cat...	OMIM:611131
Mitochondrial Membrane Protein-Associated Neurodegeneration	Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Dystonia, Babinski sign, ...	ORPHA:289560
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Tetraparesis, Fasciculation...	OMIM:615491
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Tremor, Dystonia	ORPHA:330050
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Aplastic anemia, Small nail, Pterygium of nails, Pancytopenia, Retic...	OMIM:224230
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone...	OMIM:616469
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Vitiligo, Decreased circulating antibody level, Recurrent sino...	OMIM:619846
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy, Subcapsular cataract	OMIM:268020
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Immunodeficiency With Hyper-Igm, Type 1	Pneumocystis carinii pneumonia, Decreased circulating IgE, Sepsis, Decreased circulating IgG leve...	OMIM:308230
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dystonia, Abnorm...	OMIM:617435
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Loss of ambulation, Thrombocytopenia, Dystonia, Hemolytic anemia	OMIM:615010
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive fungal infection, Opp...	ORPHA:83471
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Abnormal optic nerve morphology, O...	ORPHA:79430
4H Leukodystrophy	Cataract, Cerebellar atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Pr...	ORPHA:289494
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait	OMIM:616269
Vestibulocochlear Dysfunction, Progressive	Tinnitus, Vestibular areflexia, Progressive hearing impairment	OMIM:193005
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Lethargy, Neutropenia	ORPHA:2169
Activated Pi3K-Delta Syndrome	Pneumonia, Hearing impairment, Lymphoma, Recurrent otitis media, Splenomegaly, Chronic sinusitis,...	ORPHA:397596
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi...	OMIM:613983
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p...	OMIM:601399
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Squamous cell car...	ORPHA:60032
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal bleeding, Abnormal neutrophil morphology, Leukopenia, Abnor...	ORPHA:86841
Legius Syndrome	Low-set ears, Inguinal freckling, Low posterior hairline, Posteriorly rotated ears, Freckling, Ax...	OMIM:611431
Retinitis Pigmentosa 75	Mixed astigmatism, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617023
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Intersti...	OMIM:615952
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyramidal sign, Gait distu...	ORPHA:542310
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Hypocomplementemic Urticarial Vasculitis	Emphysema, Meningitis, Pleural effusion, Recurrent bacterial infections	ORPHA:36412
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology	ORPHA:1617
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level	ORPHA:169079
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath...	OMIM:612438
Meconium Aspiration Syndrome	Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothorax, Abnormal pulmon...	ORPHA:70588
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Brad...	OMIM:300894
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin...	ORPHA:99750
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, ...	OMIM:618278
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Abnormal delay...	OMIM:301000
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Noonan Syndrome 4	Low-set ears, Abnormal bleeding, Bruising susceptibility, Blue irides, Thrombocytopenia, Thickene...	OMIM:610733
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Cataract, Pseudobulbar paralysis, Tremor, Babinski sign, Gait dis...	OMIM:616586
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Vestibular areflexia, Sensorineural hearing impairment	OMIM:609006
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Art...	OMIM:616414
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Farber Disease	Spasticity, Hepatosplenomegaly, Myoclonus, Paraparesis, Thrombocytopenia, Corneal opacity, Anemia...	ORPHA:333
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia	OMIM:612016
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Agammaglobulinemia, X-Linked	Hearing impairment, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, R...	OMIM:300755
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Decreased circulati...	ORPHA:1572
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Lethargy, Spastic ataxia, Increased mean corpuscular volume	OMIM:277410
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell...	OMIM:618806
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Large fleshy ears, Inability to walk, Astigmatism, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia	OMIM:619556
Leukodystrophy, Hypomyelinating, 2	Spastic paraparesis, Intention tremor, Rigidity, Babinski sign, Head titubation, Ataxia, Dystonia...	OMIM:608804
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Verrucae, Increased circulating IgE level, Squamous cell carcinoma ...	ORPHA:217390
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Antisynthetase Syndrome	Neoplasm, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pulmo...	ORPHA:81
Spinocerebellar Ataxia Type 36	Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem...	ORPHA:276198
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal...	ORPHA:1807
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dysto...	OMIM:617013
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel...	ORPHA:39044
Glut1 Deficiency Syndrome 2	Splenomegaly, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis	OMIM:612126
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Alpha-1-Antitrypsin Deficiency	Emphysema, Bronchiectasis, Bronchitis	ORPHA:60
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ...	OMIM:619220
Ataxia-Telangiectasia	Spasticity, Abnormality of chromosome stability, Premature graying of hair, Lymphopenia, Tremor, ...	ORPHA:100
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Tetraparesis, Antalgic gait, Tremor	OMIM:620546
Granulomatosis With Polyangiitis	Pulmonary infiltrates, Hematuria, Sensorineural hearing impairment, Prostatitis, Inflammatory abn...	ORPHA:900
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Recurrent ot...	OMIM:620233
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Cerebral palsy, Generalized dystonia, Dystonia, Spastic ataxia, Paraparesis, Anemia, Spastic tetr...	OMIM:620358
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation	OMIM:617306
Combined Oxidative Phosphorylation Deficiency 18	Hypersegmentation of neutrophil nuclei, Increased mitochondrial number, Dysmetria, Tremor, Macroc...	OMIM:615578
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Ungual fibroma, Pulmonary lymphangio...	ORPHA:538
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction,...	ORPHA:909
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ...	OMIM:612067
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Systemic Sclerosis	Chronic kidney disease, Barrett esophagus, Acute kidney injury, Irregular hyperpigmentation, Alop...	ORPHA:90291
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Spinal Arteriovenous Metameric Syndrome	Paraparesis, Visceral angiomatosis, Cutaneous angiolipomas	ORPHA:53721
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Epistaxis, Bruising susceptibility, Ocular albinism, Incoordination, Abnormali...	ORPHA:352723
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Abnormality of T ...	OMIM:181000
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocytic intersti...	ORPHA:289390
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Primary Lateral Sclerosis	Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology...	ORPHA:35689
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Tremor, Ataxia	OMIM:300983
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia	ORPHA:306669
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Conductive hearing impairment, Sensorineural hearing impairment	OMIM:610738
Large Congenital Melanocytic Nevus	Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit...	ORPHA:626
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic...	ORPHA:240085
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Somatic sensory dysfunction, Hearing impairment	ORPHA:101082
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, Hepatomegaly, Pulmonary f...	OMIM:612852
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Hypopigmented skin patches, Hearing impairment, Hepatosplenomega...	OMIM:609136
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Broad-based gait, Hypopigmentation of the skin, Fair hair, In...	ORPHA:72
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Bruising susceptibility, Reduced natural killer cell activity, Splenomegaly, Pe...	ORPHA:540
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased...	ORPHA:449395
Revesz Syndrome	Ataxia, Bone marrow hypocellularity, Broad-based gait, Aplastic anemia, Megalocornea, Macrocytic ...	OMIM:268130
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst...	ORPHA:420492
Proteus-Like Syndrome	Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Abnormal pupil morphology, Splenomegal...	ORPHA:2969
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis...	OMIM:243700
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in re...	OMIM:613179
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Spastic paraparesis, Spasticity, Rigidity, Babinski sign, ...	ORPHA:363722
Polymyositis	Abnormal renal tubule morphology, Arthritis, Hepatomegaly, Abnormal pulmonary interstitial morpho...	ORPHA:732
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea...	ORPHA:97355
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Megacystis, Vesicoureteral reflux, Intention tremor, Agenesis of corpus call...	ORPHA:209905
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Zygomycosis	Pulmonary infiltrates, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, ...	ORPHA:73263
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Juvenile catarac...	OMIM:300055
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,...	OMIM:616860
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski ...	OMIM:607694
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Atelectasis, Eczematoid dermat...	OMIM:306400
Coasy Protein-Associated Neurodegeneration	Difficulty walking, Parkinsonism, Spastic paraparesis, Oromandibular dystonia	ORPHA:397725
Sialidosis Type 2	Ataxia, Hearing impairment, Splenomegaly, Tremor, Corneal opacity	ORPHA:87876
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Proximal Myopathy With Extrapyramidal Signs	Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ...	ORPHA:401768
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,...	OMIM:618877
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cerebellar hy...	ORPHA:529665
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Sparse hair, Bone marrow hypocellularity, Fine hair, Premature graying of hair, Nail dystrophy, T...	OMIM:612199
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Increased mean corpuscular volume, Astigmatism, Abnormal hair pattern, Thr...	ORPHA:261250
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Erdheim-Chester Disease	Osteomyelitis, Abnormal cerebellum morphology, Pleural effusion, Renal insufficiency, Skin rash, ...	ORPHA:35687
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, Tremor, Babinsk...	OMIM:616505
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Splenomegaly, Thro...	ORPHA:290
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy, Hypertrichosis	OMIM:256000
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Tremor, Broad-based gait	OMIM:619470
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Zika Virus Disease	Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Leukocytosis, Positive Romberg sign, Tremor, Dis...	ORPHA:206594
Lujo Hemorrhagic Fever	Oliguria, Resting tremor, Atelectasis, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency...	ORPHA:319213
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Noonan Syndrome 13	Highly arched eyebrow, Hypertrichosis, Multiple lentigines, Low posterior hairline, Broad eyebrow...	OMIM:619087
Congenital Toxoplasmosis	Anemia, Abnormality of retinal pigmentation, Thrombocytopenia	ORPHA:858
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Enlarged kidney, Nephroblastoma	OMIM:618272
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Partial agenesis of the corpus callosum, Conductive hearing impairment, Agenesis of co...	ORPHA:85179
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Wolfram Syndrome 1	Cataract, Pigmentary retinopathy, Hearing impairment, Sideroblastic anemia, Tremor, Sensorineural...	OMIM:222300
Alopecia Universalis	Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of...	ORPHA:701
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Iritis	ORPHA:158000
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair	OMIM:269920
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Neurofibromatosis, Familial Spinal	Neurofibroma, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Lisch nodules, P...	OMIM:162210
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai...	ORPHA:90117
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston...	ORPHA:280219
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop...	ORPHA:69087
Gaucher Disease, Type I	Hypersplenism, Pancytopenia, Splenomegaly, Pulmonary infiltrates, Hepatomegaly, Hyperpigmentation...	OMIM:230800
Immunodeficiency 32B	Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, ...	OMIM:226990
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul...	OMIM:615234
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ...	OMIM:619911
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation, Cataract	ORPHA:44
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia	OMIM:603472
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic nerve dysplasia, Hyp...	OMIM:214110
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Hearing impairment, Eczematoid dermatitis, Hypersegmentation of neutrophil n...	OMIM:617780
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A...	OMIM:300623
Gaucher Disease, Type Iii	Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Thrombocytopenia, Ataxia	OMIM:231000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Corneal crystals, Retinal pigment epithelial mottling	OMIM:219900
Distal Deletion 3P	Low-set, posteriorly rotated ears, Spasticity, Abnormal vestibulo-ocular reflex, Hearing impairment	ORPHA:1620
Charcot-Marie-Tooth Disease Type 1E	Acroparesthesia, Difficulty walking, Inability to walk, Impaired vibration sensation in the lower...	ORPHA:90658
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
46,Xx Gonadal Dysgenesis	Sparse pubic hair, Pulmonary fibrosis, Hearing impairment, Abnormality of secondary sexual hair	ORPHA:243
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Blue Rubber Bleb Nevus	Microcytic anemia, Intestinal bleeding, Prolonged bleeding time	ORPHA:1059
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Immunodeficiency 27A	Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pulmonary infiltrates, Increased infla...	OMIM:209950
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Abnormal helix morphology, Multiple cafe-au-lait spots, Prolon...	ORPHA:638
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule	OMIM:618373
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor...	ORPHA:101
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Arthrogryposis, Distal, Type 5	Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Retinal fold, Keratoglobus	OMIM:108145
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa...	OMIM:613280
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Familial Dysautonomia	Ataxia, Impaired pain sensation, Abnormal pupil morphology, Heterochromia iridis, Gait disturbanc...	ORPHA:1764
Hermansky-Pudlak Syndrome 10	Low-set ears, Ocular albinism, Splenomegaly, Dystonia, Hepatomegaly, Neutropenia, Albinism, Abnor...	OMIM:617050
Bardet-Biedl Syndrome 9	Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p...	OMIM:615986
Atypical Rett Syndrome	Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ...	ORPHA:3095
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Glandular hypospadias, Penile hypospadias, Micropenis, Hypospadias	OMIM:300219
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Diffuse cerebellar atrophy, Mydriasis, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal s...	ORPHA:247815
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino...	OMIM:617638
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Vitiligo, Multiple lentigines	ORPHA:101003
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Leukocytosis, Otitis media, Increa...	ORPHA:3392
Sarcoidosis	Abnormal pleura morphology, Abnormal nasal mucosa morphology, Erythema nodosum, Tubulointerstitia...	ORPHA:797
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Cataract, Impaired vibratory sensation, Resting tremor, Abnormal upper motor ...	OMIM:601162
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Abnormal ...	ORPHA:125
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
H Syndrome	Alopecia, Hearing impairment, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Azo...	ORPHA:168569
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Classic Galactosemia	Cataract, Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremor, Clumsin...	ORPHA:79239
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Babinski sign, Sensory ata...	OMIM:500013
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Dyskeratosis Congenita, Autosomal Recessive 3	Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
Multiple Sulfatase Deficiency	Optic atrophy, Cataract, Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Corneal...	ORPHA:585
Gillespie Syndrome	Cerebellar atrophy, Hypoplasia of the iris, Aniridia, Postural tremor, Cerebellar hypoplasia, Ata...	OMIM:206700
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of...	ORPHA:227990
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Bone spicu...	OMIM:609033
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Spasticity, Hypopigmented skin patches, Premature graying of hair, Splenomegaly, Sensorineural he...	ORPHA:163746
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign...	OMIM:128100
X-Linked Charcot-Marie-Tooth Disease Type 2	Clasp-knife sign, Spastic paraparesis, Hand tremor, Distal sensory impairment, Babinski sign, Ste...	ORPHA:101076
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Sensorineural hearing impairment, Aspiration pneumonia	OMIM:609528
Transcobalamin Deficiency	Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, ...	ORPHA:859
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Abnormality of retinal pigmentation	ORPHA:3085
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnor...	OMIM:607454
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal m...	ORPHA:5
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches, Onycholysis	ORPHA:525
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Pontocerebellar atrophy, Tremor, Cerebellar hypoplasia, Abnormal pyramidal sign, ...	OMIM:618060
Interstitial Lung And Liver Disease	Aminoaciduria, Intraalveolar phospholipid accumulation, Hepatomegaly, Thrombocytosis, Anemia, Abn...	OMIM:615486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:331206
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Isolated Agammaglobulinemia	Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, I...	ORPHA:229717
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Optic disc pallor, Retinal thinning, Ataxia	OMIM:618970
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency, Pulmonary infiltrates, Arthritis, Pulmonary fibrosis	ORPHA:220393
Spinocerebellar Ataxia With Epilepsy	Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Anterior Segment Dysgenesis 3	Cerebellar vermis hypoplasia, Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vas...	OMIM:601631
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Hearing impairment, Astigmatism, Numer...	OMIM:278760
Von Willebrand Disease, Type 1	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ...	OMIM:193400
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Pili torti, Hyperpigmentation of the skin, Sparse hair, Tricho...	OMIM:301845
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Falls, Generalized dystonia, Progressive spastic paraplegia, Cerebellar vermi...	ORPHA:329308
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent upper respiratory tract infections, Resting tremor, Progressive extrapyramidal muscular...	ORPHA:225147
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Pulmonary infiltrate...	ORPHA:3260
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2584
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Sensorineural hearing impairment, Gait disturbance, Aplasia/Hypoplasia of the cerebellum,...	ORPHA:1192
Autosomal Recessive Spastic Paraplegia Type 11	Inability to walk, Abnormality of extrapyramidal motor function, Parkinsonism, Paraparesis, Gait ...	ORPHA:2822
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Cataract, Pigmentary retinopathy, Abnormal helix morphology, Cerebellar atrophy, At...	OMIM:614866
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Reticulocytosis, Lethargy, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Oculodentodigital Dysplasia	Cataract, Spasticity, Microcornea, Conductive hearing impairment, Tetraparesis, Paraparesis, Atax...	OMIM:164200
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Decreased ...	ORPHA:221139
Menkes Disease	Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair	OMIM:309400
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro...	OMIM:619611
Isolated Congenital Hypoglossia/Aglossia	Hamartoma, Aspiration pneumonia	ORPHA:141152
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r...	OMIM:300578
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Relapsing Polychondritis	Sensorineural hearing impairment, Hematuria, Scleritis, Inflammatory abnormality of the eye, Alop...	ORPHA:728
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti...	OMIM:618459
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Hypoplasia of the pons, Megalocornea, Dilated fourth ventr...	ORPHA:370959
Sturge-Weber Syndrome	Optic atrophy, Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Ab...	ORPHA:3205
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Generalized dystonia, Cerebellar vermis atrophy, Inability ...	OMIM:312080
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Low-set...	OMIM:614069
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin	ORPHA:75563
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Conjunctivitis, Hypertrichosis, Hep...	ORPHA:505248
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Partial absence ...	OMIM:620430
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Ground-glass opacification, ...	ORPHA:60025
Gaucher Disease	Splenic infarction, Hearing impairment, Hepatitis, Osteomyelitis, Pancytopenia, Leukopenia, Splen...	ORPHA:355
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Sensorineural hearing impairment	OMIM:619693
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly, Dystonia, Pulmonary f...	OMIM:607625
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks	ORPHA:100996
Acute Transverse Myelitis	Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Dissociated sensory loss, ...	ORPHA:139417
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of...	ORPHA:227982
Typhoid	Skin rash, Splenomegaly, Tremor, Infectious encephalitis, Hepatomegaly, Abnormal pulmonary inters...	ORPHA:99745
Pneumocystosis	Combined cystic and ground-glass pattern on pulmonary HRCT, Interstitial pneumonitis, Pleural eff...	ORPHA:723
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Acral Peeling Skin Syndrome	Hyperpigmentation of the skin	ORPHA:263534
Reticular Dysgenesis	Abnormality of neutrophils, Hearing impairment, Leukopenia, Skin rash, Anemia, Recurrent respirat...	ORPHA:33355
Maternal Uniparental Disomy Of Chromosome X	Low posterior hairline, Hypopigmentation of the skin	ORPHA:261519
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Recurrent upper respiratory tract infections, Rec...	ORPHA:183675
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor...	ORPHA:140936
Superficial Siderosis	Abnormal pyramidal sign, Ataxia, Bilateral sensorineural hearing impairment, Abnormal cerebellar ...	ORPHA:247245
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hypersplenism, Hepatosplenomegaly, Reduced renal corticomedullary differe...	OMIM:619902
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Retinitis Pigmentosa	Optic atrophy, Keratoconus, Posterior subcapsular cataract, Attenuation of retinal blood vessels,...	ORPHA:791
Sialidosis Type 1	Cataract, Myoclonus, Splenomegaly, Tremor, Sensorineural hearing impairment, Gait disturbance, Co...	ORPHA:812
Zellweger Syndrome	Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity, Brushfield sp...	ORPHA:912
Poliomyelitis	Fasciculations, Inability to walk, Paresthesia, Hyperkinetic movements, Paralysis, Paraparesis	ORPHA:2912
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Postural tremor, Gait imbala...	ORPHA:64753
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Factor V Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee...	OMIM:227400
Oculocerebrorenal Syndrome Of Lowe	Neoplasm of the skin, Periodontitis, Hematuria, Proximal renal tubular acidosis, Chronic otitis m...	ORPHA:534
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Lowry-Wood Syndrome	Astigmatism, Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Gaucher Disease Type 1	Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, In...	ORPHA:77259
Knobloch Syndrome 1	Band keratopathy, Horizontal eyebrow, Vitreoretinopathy, Lens subluxation, Attenuation of retinal...	OMIM:267750
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ...	OMIM:615468
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge...	ORPHA:1867
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections	OMIM:219100
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t...	ORPHA:458803
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation	OMIM:616353
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr...	OMIM:614381
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Cataract, Pigmentary retinopathy, Abnormal helix morphology, Hearing impairment, Op...	OMIM:214100
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Selective Igm Deficiency	Recurrent bronchitis, Meningitis, Paraproteinemia, Otitis media, Recurrent sinusitis, Decreased c...	ORPHA:331235
Immunodeficiency 67	Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a...	OMIM:607676
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor...	OMIM:614298
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Cerebellar dy...	ORPHA:98889
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr...	OMIM:602481
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, Tremor, S...	ORPHA:447753
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Tremor, Multiple lipomas, Abnormal pyramidal sign, Gait disturbance, ...	ORPHA:765
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time	OMIM:185050
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Myelodyspl...	ORPHA:486
Sneddon Syndrome	Lymphopenia, Hemiplegia, Tremor, Impaired distal tactile sensation, Cerebral hemorrhage, Decrease...	OMIM:182410
Q Fever	Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Splenomegal...	ORPHA:781
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Frequent falls	OMIM:160565
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ...	ORPHA:335
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Al Amyloidosis	Howell-Jolly bodies, Nephrotic syndrome, Renal insufficiency, Increased circulating antibody leve...	ORPHA:85443
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Klippel-Trénaunay Syndrome	Microcytic anemia, Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage	ORPHA:90308
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Omenn Syndrome	Pneumonia, Alopecia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepato...	ORPHA:39041
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent enteroviral infections, Hearing impairment, Enteroviral dermatomyositis syndrome, Recur...	OMIM:307200
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Bronchiolitis Obliterans	Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Bro...	ORPHA:1303
Mulibrey Nanism	Astigmatism, Pigmentary retinopathy, Iris coloboma, Corneal dystrophy	OMIM:253250
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei, Abnormality iris morphology	ORPHA:250999
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Iris atrophy, Babinski sign, Parkinsonism, Olivopontocerebellar atrophy, Ataxia...	OMIM:146500
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Shuffling gait, Prelingual sensorineural hearing impairment, Genera...	ORPHA:52368
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit...	ORPHA:48818
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le...	ORPHA:86839
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Hyperhidrosis, Retinal degeneration	ORPHA:79264
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Cerebellar atrophy, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Thrombocytopenia, Dys...	OMIM:617710
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Pelizaeus-Merzbacher Disease In Female Carriers	Spastic paraparesis, Hand apraxia, Difficulty walking, Inability to walk, Babinski sign, Lower li...	ORPHA:280229
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent viral infections, Abnormal circulating IgM level, Increased circulating IgA level, Recu...	OMIM:618048
Short-Rib Thoracic Dysplasia 12	Low-set ears, Renal hypoplasia, Atelectasis, Hamartoma of tongue, Splenomegaly, Hypoplastic nippl...	OMIM:269860
Nocardiosis	Pneumonia, Unusual CNS infection, Sepsis, Brain abscess, Emphysema, Pleural effusion, Infectious ...	ORPHA:31204
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Head tremor, Pontocerebellar atrophy, Tremo...	OMIM:606002
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcytic anemia, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly	OMIM:619013
Nail-Patella Syndrome	Acroparesthesia, Tip-toe gait, Impaired pain sensation, Impaired temperature sensation, Abnormal ...	ORPHA:2614
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches, Sensorineural hearin...	ORPHA:53271
Prolidase Deficiency	Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmentation, Low anterior...	ORPHA:742
Saccharopinuria	Tremor, Gait ataxia, Distal sensory impairment, Spastic diplegia	ORPHA:3124
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hearing impairment, Abnormality of skin pigmentation	ORPHA:457260
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Dermatomyositis	Abnormal eosinophil morphology, Alopecia, Heliotrope rash, Lymphoma, Neoplasm, Skin rash, Lung ad...	ORPHA:221
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ...	ORPHA:811
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi...	ORPHA:227510
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Lateral ventricle dilatation, Atelectasis, Long eyelashes, Splenic cyst, C...	OMIM:620371
Myopathy With Extrapyramidal Signs	Difficulty walking, Cerebellar dysplasia, Chorea, Leukocytosis, Splenomegaly, Tremor, Abnormality...	OMIM:615673
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia	OMIM:619092
Jaberi-Elahi Syndrome	Low-set ears, Cataract, Broad-based gait, Inability to walk, Cerebellar vermis atrophy, Gait atax...	OMIM:617988
Pelger-Huet Anomaly	Giant platelets, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Thrombocytopenia,...	OMIM:169400
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Cataract, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnorma...	ORPHA:2715
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Hearing impairment, Corneal opacity, Sclerocornea	ORPHA:284160
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Vocal cord paresis, Facial paralysis, Cerebellar atrophy, Impaired pain se...	ORPHA:99949
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Vici Syndrome	Optic atrophy, Cataract, Hypopigmentation of the skin, Abnormal macular morphology, Abnormality o...	ORPHA:1493
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Pigmentary retinopathy, Cataract, Vitiligo, Nail dystrophy, Kerat...	OMIM:240300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Alopecia, Cutaneous abscess, Eczematoid dermatitis, Chron...	OMIM:618282
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Tubulointerstitial fibrosis, Desquamative interstit...	OMIM:263000
Diaphanospondylodysostosis	Low-set ears, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Hypoplastic fingernail, En...	OMIM:608022
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Decreased circulating IgG level, Recurrent upper respiratory tract infections,...	OMIM:619752
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Gait ataxia, Myoclonus, Tremor,...	ORPHA:363400
Non-Specific Early-Onset Epileptic Encephalopathy	Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr...	ORPHA:442835
Wild Type Attr Amyloidosis	Nephropathy, Nephrotic syndrome, Pleural effusion, Renal insufficiency, Pulmonary edema, Proteinu...	ORPHA:330001
Spontaneous Periodic Hypothermia	Gait disturbance, Tremor, Ataxia	ORPHA:29822
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract, Spastic paraparesis	OMIM:619338
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Dyskeratosis Congenita, Autosomal Recessive 2	Recurrent opportunistic infections, Bone marrow hypocellularity, Reticulated skin pigmentation, N...	OMIM:613987
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity	ORPHA:3077
Congenital Factor Ii Deficiency	Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ...	ORPHA:325
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder div...	OMIM:613177
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare...	OMIM:105210
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio...	ORPHA:169090
Isolated Succinate-Coq Reductase Deficiency	Spasticity, Spastic paraparesis, Loss of ambulation, Babinski sign, Ataxia, Spastic tetraparesis,...	ORPHA:3208
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:98933
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Vici Syndrome	Low-set ears, Cataract, Cerebellar vermis hypoplasia, Hypopigmentation of the skin, Cutaneous ane...	OMIM:242840
Reactive Arthritis	Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Abnormal ...	ORPHA:29207
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Recurrent urinary tract infections, Em...	ORPHA:90349
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased lymph...	ORPHA:35078
Retinoblastoma	Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobl...	ORPHA:790
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Micro Syndrome	Optic atrophy, Cataract, Microcornea, Retinal coloboma, Abnormality of retinal pigmentation, Gene...	ORPHA:2510
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Cerebellar hypoplasia, Craniofacial dystonia, Neutropenia, Sparse hair, Hyp...	OMIM:618253
Sjogren-Larsson Syndrome	Spasticity, Spastic paraparesis, Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Barth Syndrome	Abnormality of neutrophils, Abnormal mitochondrial morphology	ORPHA:111
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi...	OMIM:615530
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Micropha...	OMIM:603467
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Refsum Disease	Nail dysplasia, Retinopathy, Abnormality of retinal pigmentation, Cataract	ORPHA:773
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia, Spastic hemiparesis, Myoclonus...	ORPHA:282166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Pleural effusion, Splenomegaly, Abnormal spleen morphology, Papilloma, Multip...	ORPHA:464329
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo...	ORPHA:178320
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Alopecia, Macular edema, Anterior chamber cells, Posterior synechiae...	ORPHA:79098
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer...	OMIM:600462
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T...	OMIM:618056
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Yellow Nail Syndrome	Nephropathy, Biliary tract neoplasm, Yellow nails, Toenail dysplasia, Abnormal fingernail morphol...	ORPHA:662
Immune-Mediated Necrotizing Myopathy	Neoplasm, Skin rash, Myositis, Myocarditis, Abnormal pulmonary interstitial morphology	ORPHA:206569
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Scheie Syndrome	Spastic paraparesis, Cerebral palsy, Splenomegaly, Sensorineural hearing impairment, Corneal opacity	ORPHA:93474
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Tremor, Distal sensor...	ORPHA:99956
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Alopecia, Recurrent skin infections, Autoimmune hemolyti...	OMIM:616576
Koolen-De Vries Syndrome	Abnormality of hair texture, Cataract, Iris hypopigmentation, Fair hair	OMIM:610443
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Chor...	ORPHA:233
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus	OMIM:229200
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Pleural effusion, Parenchymal consolidation, Leukocytosis, Pulmonary infil...	ORPHA:36238
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec...	ORPHA:300298
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Sneddon Syndrome	Chorea, Tremor, Hemiparesis	ORPHA:820
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening...	OMIM:610984
Noonan Syndrome	Abnormal bleeding, Juvenile myelomonocytic leukemia, Bruising susceptibility, Low-set, posteriorl...	ORPHA:648
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
22Q11.2 Deletion Syndrome	Low-set ears, Hypopigmented skin patches, Hearing impairment, Polycystic kidney dysplasia, Hyposp...	ORPHA:567
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233710
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Microcornea, Optic disc coloboma, Low posterior hairline, Heterochromia ir...	ORPHA:2995
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Astrocytosis, Pontocerebellar atrophy, Myositis, Recurrent lower respiratory tract i...	ORPHA:258
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Astigmatism, Sensorineural hearing impairment, Protruding e...	ORPHA:2479
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Eosinophilia, Paraparesis, Somatic sensory dysfunction	ORPHA:449427
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia, Pulmonar...	OMIM:615415
Neurofibromatosis Type 1	Chronic myelogenous leukemia, Cataract, Inguinal freckling, Axillary freckling, Hypopigmented ski...	ORPHA:636
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Hypomelanosis Of Ito	Alopecia, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Low-set ears, Reduced natural killer cell count, Decreased circulating IgA level, Chro...	OMIM:242860
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Alopecia, Decreased circulating IgA level, Nail dystrophy, Spars...	OMIM:620040
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,...	ORPHA:85167
Werner Syndrome	Abnormal hair whorl, Cataract, Premature graying of hair, White forelock, Abnormality of retinal ...	ORPHA:902
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax	OMIM:614816
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,...	OMIM:617675
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Hyperkinetic mo...	OMIM:300957
Meckel Syndrome, Type 8	Low-set ears, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Waisman Syndrome	Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo...	OMIM:311510
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Tremor, Oculomotor apraxia, Gait...	ORPHA:220497
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove...	ORPHA:50815
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233690
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Neutral Lipid Storage Disease With Ichthyosis	Difficulty walking, Sensorineural hearing impairment, Subcapsular cataract, Ataxia, Abnormal gran...	ORPHA:98907
Watson Syndrome	Low-set ears, Inguinal freckling, Multiple cafe-au-lait spots, Axillary freckling, Posteriorly ro...	OMIM:193520
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Tetraparesis	OMIM:602080
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:101800
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Melanocytic nevus, Fing...	ORPHA:978
Overlap Myositis	Rheumatoid arthritis, Leukopenia, Thrombocytopenia, Abnormality of the kidney, Arthritis, Abnorma...	ORPHA:206572
Meier-Gorlin Syndrome 6	Emphysema, Recurrent respiratory infections	OMIM:616835
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Peters anomaly, Frontal upsweep of hair, Axenfeld anomaly, Posterior embr...	OMIM:612582
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Renal insufficiency, Overfolded helix, Hypoplastic toenails, Agenesis of corpus cal...	OMIM:608836
Immunodeficiency 23	Conductive hearing impairment, Chronic mucocutaneous candidiasis, Recurrent respiratory infection...	OMIM:615816
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:98754
Cohen Syndrome	Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior h...	ORPHA:193
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atelectasis, Torticollis, Renal neoplasm, Mixed hearing impairment, Posteriorly rot...	ORPHA:536467
Spondyloenchondrodysplasia	Pneumonia, Chronic kidney disease, Granuloma, Hepatitis, Pancytopenia, Abnormal lateral ventricle...	ORPHA:1855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Cerebellar atrophy, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Trem...	OMIM:615356
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp...	ORPHA:79145
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Polycythemia, Difficulty walking, Splenomegaly, Action tremor, Rigidity, Dys...	ORPHA:309854
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Per...	OMIM:613843
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Joubert Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia,...	ORPHA:475
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hearing impairment, Fascicul...	OMIM:620327
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Limb ataxia, Gait ataxia, Chorioretinal atrophy, Action tremor	OMIM:615651
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:98793
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Hemiplegia, Leukopenia, Splenomegaly, Tetraplegia, Thrombocytopenia, Ataxia, An...	OMIM:267700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia	ORPHA:70594
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Protei...	ORPHA:77261
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ear, Abnormality of ski...	ORPHA:1806
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:177904
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Abetalipoproteinemia	Impaired vibratory sensation, Broad-based gait, Abnormal bleeding, Acanthocytosis, Reticulocytosi...	ORPHA:14
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:177901
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy, Hematochezia, Tremor, Ataxia	ORPHA:79095
Immunodeficiency 108 With Autoinflammation	Epistaxis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Cinca Syndrome	Abnormality of thrombocytes, Hearing impairment, Leukocytosis, Splenomegaly, Sensorineural hearin...	ORPHA:1451
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental...	OMIM:613154
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Icf Syndrome	Low-set ears, Abnormality of chromosome stability, Abnormality of neutrophils, Lymphopenia, Anemi...	ORPHA:2268
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Neuroocular Syndrome 1	Highly arched eyebrow, Lens coloboma, Microcornea, Cataract, Small nail, Peters anomaly, Long eye...	OMIM:619539
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Renal-Hepatic-Pancreatic Dysplasia 1	Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Enlarged kidney, ...	OMIM:208540
Cohen Syndrome	Optic atrophy, Leukopenia, Thick eyebrow, Bull's eye maculopathy, Chorioretinal dystrophy, Bone s...	OMIM:216550
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Tremor	OMIM:612164
Avian Influenza	Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Ground-glass opacification, Lymphopenia, Leu...	ORPHA:454836
Mucolipidosis Ii Alpha/Beta	Recurrent pneumonia, Hypopigmentation of the skin, Sparse eyebrow, Recurrent otitis media, Spleno...	OMIM:252500
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Terminal Osseous Dysplasia	Low-set ears, Abnormality of skin pigmentation	OMIM:300244
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s...	OMIM:615067
Juvenile Dermatomyositis	Alopecia, Skin rash, Myositis, Arthritis, Pulmonary fibrosis, Pericarditis	ORPHA:93672
Combined Oxidative Phosphorylation Defect Type 7	Spastic paraparesis, Difficulty walking, Inability to walk, Distal sensory impairment, Impaired t...	ORPHA:254930
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Hypopigmentation o...	OMIM:210900
Alpha-Mannosidosis, Adult Form	Pneumonia, Cerebellar atrophy, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Mixed hearin...	ORPHA:309288
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, C...	OMIM:618131
Joubert Syndrome With Hepatic Defect	Low-set ears, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Splenomegaly, Tremor, Oculomo...	ORPHA:1454
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Pancytopenia, Myoclonus, Tremor, Sensorineural hearing impairment, Loss of am...	OMIM:607426
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Cataract, Abnormal optic nerve morphology, Abnormal hair morphology, Leukonychia, ...	ORPHA:2526
Digeorge Syndrome	Low-set ears, Unilateral renal agenesis, Recurrent pneumonia, Impaired T cell function, Atelectas...	OMIM:188400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Nail dystrophy, Sparse eyelashes,...	OMIM:604292
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Azoospermia, Pancytopenia,...	ORPHA:2072
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal...	ORPHA:209959
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Ridged nail, Anonychia, Lester's sign, Concave nail, Antecubi...	OMIM:161200
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Alopecia, Coarse hair, Hearing impairment, Chronic mucocutaneous ...	OMIM:158310
Beckwith-Wiedemann Syndrome	Nephropathy, Chiari malformation, Hearing impairment, Abnormal earlobe morphology, Hepatoblastoma...	ORPHA:116
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Interlobu...	OMIM:265450
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Chromomycosis	Recurrent bacterial infections, Hypopigmented skin patches	ORPHA:182
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Cockayne Syndrome Type 1	Cataract, Pigmentary retinopathy, Hearing impairment, Difficulty walking, Tremor, Lower limb spas...	ORPHA:90321
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Tremor, Oculomotor apraxia, Gait...	ORPHA:220493
Dentinogenesis Imperfecta	Bruising susceptibility, Prolonged bleeding time, Hearing impairment	ORPHA:49042
Proteus Syndrome	Low-set ears, Pulmonary cyst, Rib exostoses, Exostosis of the external auditory canal, Generalize...	ORPHA:744
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Freckling	OMIM:278720
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter...	OMIM:116920
Alg9-Cdg	Low-set ears, Hypoplasia of the bladder, Cerebellar atrophy, Abnormal lung lobation, Large fleshy...	ORPHA:79328
Acrocephalopolydactylous Dysplasia	Low-set ears, Polysplenia, Abnormal pinna morphology, Hepatomegaly, Extrapulmonary lobar sequestr...	OMIM:200995
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ambulation, Parkinsoni...	OMIM:168601
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty hypopigmentation, ...	OMIM:300860
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cataract, Impaired vibratory sensation, Tongue tremor, Tip-toe gait, Cerebellar atrophy, Fascicul...	ORPHA:466768
Perry Syndrome	Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168605
Brittle Cornea Syndrome	Corneal scarring, Abnormality of hair pigmentation, Retinal detachment, Keratoglobus, Corneal dys...	ORPHA:90354
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Decreased platelet glycoprotein Ib	OMIM:603585
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney, Pulmonary hypoplasia	OMIM:314390
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ret...	OMIM:106210
Phace Syndrome	Cataract, Hemiplegia/hemiparesis, Heterochromia iridis, Cerebellar hypoplasia, Sclerocornea, Lens...	ORPHA:42775
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hypertrichosis	OMIM:309900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration	ORPHA:713
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair	ORPHA:1979
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Spasticity, Spastic paraparesis, Speech apraxia, Abnormal cerebellu...	ORPHA:101000
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Hereditary Methemoglobinemia	Methemoglobinemia, Athetosis, Abnormality of the nail	ORPHA:621
Dyskeratosis Congenita	Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Hearing impairm...	ORPHA:1775
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl...	OMIM:129900
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Organic aciduria, Aspiration pneumonia, Renal tubular acidosis, Pancreatitis,...	ORPHA:431361
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerebellar atrophy, Resting tremor, Somatic sensory dys...	ORPHA:67036
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Freckling, Cataract	OMIM:610651
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches	ORPHA:3453
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Ocular albinism, Hearing abnormality, Myoclonus, Microtia	ORPHA:1352
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Low-set ears, Sparse eyebrow, Lateral ventricle dilatation, Sensorineural hearing impairment, Hyp...	OMIM:620075
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Spontaneous pneumothorax, Recurrent pneumonia, Acute kidney injury, Oliguria, Recur...	ORPHA:731
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ...	OMIM:616329
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Spastic paraparesis, Hearing impairment, Incoordination, Ocular anterior segment dy...	ORPHA:369891
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168600
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Atelectasis, Hearing impairment, Respiratory tract infection, Cardiomegaly, L...	ORPHA:365
Wars2-Related Combined Oxidative Phosphorylation Defect	Low-set ears, Cerebellar vermis hypoplasia, Cerebellar atrophy, Difficulty walking, Dilated fourt...	ORPHA:572798
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level, Tremor, Fasciculations	ORPHA:99965
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Spasticity, Microcornea, Facial paralysis, Cerebellar atrophy, Tetraparesis, Ectopia pupillae, He...	OMIM:175780
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR...	OMIM:130050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Inflammation of the large intestine, Per...	ORPHA:79259
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hypertrichosis, Hy...	OMIM:262190
Ellis Van Creveld Syndrome	Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Abnormality of skin pigmentation, Hypertrichosis	OMIM:612379
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary carcinoid tumor, Hepatomegaly	ORPHA:97287
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Decreased circulating IgG level, Cerebellar atrophy, Olivopontocere...	OMIM:212065
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent otitis me...	OMIM:245150
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Oculodentodigital Dysplasia	Cataract, Spasticity, Spastic paraparesis, Microcornea, Abnormality iris morphology, Hearing impa...	ORPHA:2710
Tyrosinemia Type 2	Corneal opacity, Tremor, Ataxia	ORPHA:28378
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Low-set, post...	ORPHA:30
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypopigmentation of the skin, Brittle hair	OMIM:236200
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, Myosi...	ORPHA:36234
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis	OMIM:618858
Miller Fisher Syndrome	Mydriasis, Tetraparesis, Paresthesia, Ataxia, Anisocoria	ORPHA:98919
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Tay-Sachs Disease	Cerebellar atrophy, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Fasciculations, Ina...	ORPHA:845
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly, Hypertrichosis	OMIM:266270
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Pigmentary retinopathy, Akinesia, Acanthocytosis, Tremor, Rigidity, Dy...	OMIM:234200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Thrombocytopenia, Uns...	OMIM:254900
Gastrointestinal Stromal Tumor	Hyperpigmentation of the skin	OMIM:606764
Combined Oxidative Phosphorylation Deficiency 51	Hearing impairment, Aspiration pneumonia	OMIM:619057
Rajab Interstitial Lung Disease With Brain Calcifications 1	Emphysema, Abnormal pulmonary interstitial morphology, Recurrent urinary tract infections	OMIM:613658
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Eales Disease	Epistaxis, Spastic paraparesis, Rubeosis iridis, Vitreous hemorrhage, Anterior uveitis	ORPHA:40923
Mannosidosis, Alpha B, Lysosomal	Hypertrichosis, Thick eyebrow, Sensorineural hearing impairment, Low anterior hairline, Recurrent...	OMIM:248500
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Low-set ears, Rheumatoid arthritis, Hypermelanotic macule, Recurrent otitis media, Lym...	OMIM:607944
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hamartoma of tongue, Agenesis of corpus callosum, Micropenis, Cerebellar cyst, Polycystic kidney ...	OMIM:613091
Waldenström Macroglobulinemia	Normocytic anemia, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis, Monoclonal immunogl...	ORPHA:33226
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Cataract, Ectopia lentis, Abnormality of retinal pigmentation, Retinal detachment,...	ORPHA:394
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Spasticity, Cerebellar atrophy, Resting tremor, Head tremor, Sensorineural hearing impa...	ORPHA:314404
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Relapsing Fever	Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, P...	ORPHA:91547
Chand Syndrome	Nail dysplasia, Hydroureter, Atelectasis, Curly hair	ORPHA:1401
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Sparse eyebrow, Sparse scalp hair, Fine h...	OMIM:614748
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Abnormal cerebellum morphology, Tremor	OMIM:190310
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Cerebellar hypoplasia, Lipoma...	ORPHA:502423
Meier-Gorlin Syndrome 1	Emphysema	OMIM:224690
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem...	ORPHA:251004
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Short Syndrome	Insulin resistance, Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Po...	ORPHA:3163
Pediatric-Onset Graves Disease	Keratitis, Splenomegaly, Tremor, Increased circulating free T3, Hyperkinetic movements, Thrombocy...	ORPHA:525731
Omenn Syndrome	Recurrent bacterial infections, Alopecia, Recurrent viral infections, Recurrent fungal infections	OMIM:603554
Achalasia-Addisonianism-Alacrima Syndrome	Babinski sign, Decreased circulating cortisol level, Hyperpigmentation of the skin, Ataxia, Aniso...	OMIM:231550
Nipah Virus Disease	Myoclonus, Tremor, Recurrent pharyngitis	ORPHA:99825
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Cafe-au-lait spot	OMIM:619719
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Renal insufficiency, Skin rash, Pulmonary infiltrates, Pustu...	ORPHA:139402
Gm1 Gangliosidosis	Low-set ears, Spasticity, Generalized dystonia, Hepatosplenomegaly, Splenomegaly, Tremor, Abnorma...	ORPHA:354
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation...	ORPHA:79396
Axenfeld-Rieger Syndrome, Type 3	Cerebellar vermis hypoplasia, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypo...	OMIM:602482
Foix-Alajouanine Syndrome	Somatic sensory dysfunction, Progressive spastic paraparesis, Difficulty walking, Paresthesia, Ga...	ORPHA:79093
Coccidioidomycosis	Hearing impairment, Abnormality of the spleen, Morbilliform rash, Abscess, Pulmonary infiltrates,...	ORPHA:228123
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia	OMIM:610582
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia	OMIM:620326
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Hyperpigmentation of the skin	ORPHA:2176
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Sézary Syndrome	Irregular hyperpigmentation, Abnormal lymphocyte morphology, Splenomegaly, Tremor, Abnormal immun...	ORPHA:3162
Cystic Echinococcosis	Peritoneal abscess, Pulmonary cyst, Abscess, Splenic cyst, Increased circulating antibody level, ...	ORPHA:400
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Squalene Synthase Deficiency	Abnormality of hair pigmentation, Optic nerve hypoplasia	OMIM:618156
Neonatal Marfan Syndrome	Emphysema	ORPHA:284979
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Abnormality of skin pigmentation	ORPHA:2180
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Kawasaki Disease	Sterile pyuria, Hepatitis, Conjunctivitis, Abnormality of nail color, Leukocytosis, Skin rash, Ch...	ORPHA:2331
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai...	ORPHA:678
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes	ORPHA:75496
Severe Acute Respiratory Syndrome	Acute kidney injury, Neoplasm, Acute infectious pneumonia	ORPHA:140896
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia	OMIM:606176
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis...	OMIM:620565
Down Syndrome	Conductive hearing impairment, Acute megakaryocytic leukemia, Myeloproliferative disorder, Brushf...	OMIM:190685
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Osteogenesis Imperfecta, Type Xvi	Bruising susceptibility, Conductive hearing impairment, Prolonged bleeding time, Hearing impairment	OMIM:616229
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Alopecia, Glycosuria, Lymphoma, Leukopenia, Skin rash, Hirsutism, Enlarged ...	ORPHA:2298
Mody	Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ...	ORPHA:552
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Leukocytosis, Splenomegaly, Ski...	ORPHA:829
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Coffin-Lowry Syndrome	Optic atrophy, Cataract, Hypoplastic fingernail, Hyperconvex fingernails, Abnormality of retinal ...	ORPHA:192
Endocrine-Cerebroosteodysplasia	Low-set ears, Microphallus, Hyperechogenic kidneys, Agenesis of corpus callosum, Aplasia/Hypoplas...	OMIM:612651
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys	ORPHA:1295
Pontocerebellar Hypoplasia, Type 7	Hirsutism, Hypopigmentation of the skin, Synophrys	OMIM:614969
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin	OMIM:163200
Porphyria Cutanea Tarda	Hirsutism, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:101330
Crouzon Syndrome	Melanocytic nevus, Hypopigmented skin patches	ORPHA:207
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Methemoglobinemia, Opisthotonus, Hypertonia	OMIM:250800
Immunodeficiency 21	Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in...	OMIM:614172
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
Nijmegen Breakage Syndrome	Recurrent pneumonia, Progressive vitiligo, Glioma, Retinal pigment epithelial mottling, Lymphoma,...	OMIM:251260
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Uterine neoplasm, Keratitis, Aspiration pneumonia, Vaginal n...	ORPHA:1018
Autosomal Dominant Cutis Laxa	Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis	ORPHA:90348
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Subependymal nodules, Ataxia, D...	ORPHA:25
Kikuchi-Fujimoto Disease	Alopecia, Leukopenia, Malar rash, Pleural effusion, Splenomegaly, Skin rash, Pustule, Hepatomegal...	ORPHA:50918
Good Syndrome	Thymoma, Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morpho...	ORPHA:169105
Curry-Jones Syndrome	Generalized hirsutism, Hypopigmented skin patches	ORPHA:1553
Ciliary Dyskinesia, Primary, 42	Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:618695
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ...	OMIM:232200
Cog8-Cdg	Cerebellar atrophy, Spontaneous hematomas, Myoclonus, Prolonged prothrombin time, Ataxia	ORPHA:95428
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Total anomalous pulmonary venous return, Renal agenesis, Polysplenia, Horseshoe kid...	OMIM:306955
Trichinellosis	Vertigo, Hemiplegia, Increased circulating IgE level, Hemiparesis, Conjunctival hyperemia, Babins...	ORPHA:863
Macs Syndrome	Bruising susceptibility, Prolonged bleeding time	OMIM:613075
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen...	ORPHA:98849
Chronic Granulomatous Disease	Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnor...	ORPHA:379
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Alternating Hemiplegia Of Childhood	Mydriasis, Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, ...	ORPHA:2131
Marfan Syndrome	Emphysema, Pneumothorax, Pulmonary artery dilatation	OMIM:154700
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Emphysema, Secretory IgA deficiency, Unilateral lung agenesis, R...	ORPHA:500150
Fabry Disease	Emphysema	ORPHA:324
Meacham Syndrome	Accessory spleen, Horseshoe kidney, Congenital alveolar dysplasia, Scimitar anomaly, Partial anom...	OMIM:608978
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior syn...	ORPHA:91500
Porphyria, Congenital Erythropoietic	Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t...	OMIM:263700
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Progressive Supranuclear Palsy	Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Unsteady gait, Dystonia	ORPHA:683
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Pigmentary retinopathy, Cerebellar atrophy, Inability to walk, Chorea, Corneal scarring, Myoclonu...	ORPHA:404454
Tick-Borne Encephalitis	Tongue fasciculations, Abnormal medulla oblongata morphology, Somatic sensory dysfunction, Hearin...	ORPHA:297
Cockayne Syndrome	Lentiglobus, Optic atrophy, Pigmentary retinopathy, Dry hair, Retinal arteriolar constriction, Ca...	ORPHA:191
Aicardi-Goutieres Syndrome 7	Pneumonia, Atrophic gastritis, Nephrotic syndrome, Atopic dermatitis, Cerebellar atrophy, Hepatit...	OMIM:615846
Ogden Syndrome	Low-set ears, Peripheral pulmonary artery stenosis, Sparse eyebrow, Polycythemia, Eczematoid derm...	OMIM:300855
Leukodystrophy, Hypomyelinating, 3	Spastic paraparesis, Abnormal pyramidal sign, Appendicular spasticity	OMIM:260600
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He...	ORPHA:39812
Serotonin Syndrome	Mydriasis, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia	ORPHA:43116
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Bardet-Biedl Syndrome 1	Cataract, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Astigmatism,...	OMIM:209900
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Sensorineural hearing i...	OMIM:300972
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Recurrent skin infections...	OMIM:619381
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu...	ORPHA:79404
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Somatic sensory dysfunction, Hearing impairment, Ataxia, Anisocoria	OMIM:615510
Bickerstaff Brainstem Encephalitis	Mydriasis, Facial paralysis, Tetraparesis, Dysesthesia, Babinski sign, Abnormal pyramidal sign, T...	ORPHA:79138
Scrub Typhus	Abnormal bleeding, Splenomegaly, Tremor, Anterior uveitis	ORPHA:83317
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Tetraparesis, Cerebellar edema, Rigidity, Tremor, Torticollis, Ataxia	OMIM:617186
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Low-set ears, High anterior hairline, Cupped ear, Lateral ventricle dilatation...	OMIM:615873
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Hepa...	OMIM:276700
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autosomal Recessive Spastic Paraplegia Type 55	Spasticity, Spastic paraparesis, Distal sensory impairment, Babinski sign, Lower limb spasticity,...	ORPHA:320375
Simpson-Golabi-Behmel Syndrome, Type 1	Hearing impairment, Supernumerary nipple, Agenesis of corpus callosum, Hepatoblastoma, Hepatomega...	OMIM:312870
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
Chronic Graft Versus Host Disease	Alopecia, Urinary bladder inflammation, Fasciitis, Pancytopenia, Pleural effusion, Nail dystrophy...	ORPHA:99921
Mismatch Repair Cancer Syndrome 1	Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling	OMIM:276300
Williams Syndrome	Spasticity, Chiari malformation, Megalocornea, Sensorineural hearing impairment, Posterior embryo...	ORPHA:904
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Truncal ataxia, Broad-based gait, Limb ataxia, Persistence of hemoglobin F	OMIM:617101
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Irregular hyperpigmentation, Conductive hearing impairment, Hearing impa...	ORPHA:2135
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cafe-au-lait spot, Hypopigmented skin patches, Curly hair	ORPHA:457485
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir...	OMIM:610910
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Anemia, Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Aicardi-Goutières Syndrome	Low-set ears, Spasticity, Neonatal alloimmune thrombocytopenia, Spastic paraparesis, Extrapyramid...	ORPHA:51
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Abnormal erythrocyte morphology, Acanthocytosis, Rod-cone ...	ORPHA:96180
Aicardi Syndrome	Optic atrophy, Sparse lateral eyebrow, Chorioretinal coloboma, Optic disc coloboma, Abnormality o...	ORPHA:50
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Hirsutism	ORPHA:90301
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Trisomy 9P	Protruding ear, Abnormal pupil morphology, Macrotia	ORPHA:236
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Marfan Syndrome	Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation	ORPHA:558
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Argininemia	Spastic paraparesis, Cerebellar atrophy, Frequent falls, Progressive spastic quadriplegia, Spasti...	OMIM:207800
Metachromatic Leukodystrophy	Progressive spasticity, Decerebrate rigidity, Tip-toe gait, Incoordination, Tremor, Gait disturba...	ORPHA:512
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Coarse hair, Cataract, Hirsutism, Generalized hirsutism, R...	ORPHA:581
Melioidosis	Pneumonia, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Spastic paraparesis, Sensorineural hearing impairment, Cerebellar hypoplasia, M...	ORPHA:391408
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Abnormal cerebellum morphology, Interstitial pneumonitis, Splenomegaly, Hepatomega...	ORPHA:77293
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Low-set ears, Posteriorly rotated ears	OMIM:241410
Trisomy 8P	Conductive hearing impairment, Aplasia/Hypoplasia of the tragus, Abnormal middle ear morphology, ...	ORPHA:264450
Biotinidase Deficiency	Recurrent viral infections, Spastic paraparesis, Recurrent candida infections, Recurrent fungal i...	ORPHA:79241
Nephronophthisis 11	Anemia, Anisocoria	OMIM:613550
Adult Syndrome	Absent nipple, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axillary hair, Hypoplastic...	OMIM:103285
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Dry hair, Microcornea, Hypoplasia of the iris, Abnormal ha...	OMIM:133540
Acquired Purpura Fulminans	Macular purpura, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intracranial ...	ORPHA:49566
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Decreased serum testosterone concentration, Splenomegaly, Tremor, Ataxia	OMIM:201100
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo...	ORPHA:2556
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Abnormal medulla oblongata morphology, Granuloma, Intr...	ORPHA:68
Craniolenticulosutural Dysplasia	Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars...	ORPHA:50814
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spasticity, Leukopenia, Leukocytosis, Spastic hemiparesis, Myoclonus, Prolonged prothromb...	ORPHA:20
Dpagt1-Cdg	Hearing impairment, Inability to walk, Akinesia, Abnormal cerebellum morphology, Astigmatism, Tre...	ORPHA:86309
Rothmund-Thomson Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen...	ORPHA:2909
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati...	ORPHA:157850
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Sparse scalp hair, Prominent eyelashes, Hearing imp...	ORPHA:1465
Degcags Syndrome	Chronic kidney disease, Low-set ears, Hearing impairment, Premature graying of hair, Hepatospleno...	OMIM:619488
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling	OMIM:618733
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat...	OMIM:601775
Trisomy 18	Cataract, Microcornea, Abnormality of retinal pigmentation, Abnormal toenail morphology, Iris col...	ORPHA:3380
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Grou...	OMIM:233450
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect...	ORPHA:83461
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Sensorineural ...	ORPHA:500095
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Listeriosis	Arteritis, Hearing impairment, Abscess, Pustule, Endocarditis, Acute kidney injury, Osteomyelitis...	ORPHA:533
Cutis Laxa, Autosomal Recessive, Type Ib	Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation	OMIM:614437
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Spastic paraparesis, Hemiparesis, Lower limb spasticity, Gait disturbance, Ataxia, Upper motor ne...	ORPHA:395
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Posterior subcapsular cataract, Spastic paraparesis, Astigmatism, Progressive hearing impairment	OMIM:619234
Mirage Syndrome	Hypospadias, Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia,...	OMIM:617053
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Prolo...	OMIM:212750
Chromosome 8Q21.11 Deletion Syndrome	Sclerocornea, Cataract, Pigmentary retinopathy	OMIM:614230
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
3-Methylglutaconic Aciduria, Type Viii	Cataract, Tremor, Sensorineural hearing impairment, Clonus, Hypertonia, Neutropenia, Dystonia	OMIM:617248
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Dry hair, Cataract, Retinal pigment epithelial mottling, O...	OMIM:216400
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Tremor, Thrombocytopenia, Neutropenia,...	OMIM:251100
Autosomal Dominant Progressive External Ophthalmoplegia	Cataract, Cerebellar atrophy, Resting tremor, Hearing impairment, Cogwheel rigidity, Gait ataxia,...	ORPHA:254892
Cornelia De Lange Syndrome 1	Low-set ears, Sensorineural hearing impairment, Low posterior hairline, Ectopic kidney, Hypospadi...	OMIM:122470
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Thromboc...	ORPHA:64743
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Anemia, Optic atrophy, Pigmentary retinopathy	OMIM:220110
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Pigmentary retinopathy, Trichiasis, Peters anomaly, Lymphopenia, Corneal s...	OMIM:618460
Shigellosis	Pneumonia, Acute kidney injury, Uveitis, Microangiopathic hemolytic anemia, Ulcerative colitis, U...	ORPHA:810
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches	ORPHA:47
Ruvalcaba Syndrome	Generalized hirsutism, Hypopigmented skin patches	ORPHA:3121
Triosephosphate Isomerase Deficiency	Normocytic anemia, Spasticity, Splenomegaly, Macrocytic anemia, Tremor, Unsteady gait, Dystonia, ...	OMIM:615512
Chops Syndrome	Coarse hair, Hearing impairment, Aspiration pneumonia, Horseshoe kidney, Long eyelashes, Thick ey...	OMIM:616368
Oculopalatocerebral Syndrome	Spasticity, Leukocoria	OMIM:257910
Niemann-Pick Disease Type C	Hearing impairment, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal p...	ORPHA:646
Hyperlysinemia	Poor motor coordination, Recurrent pneumonia, Tip-toe gait, Dysmetria, Tremor, Neck hypertonia, O...	ORPHA:2203
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow	ORPHA:98791
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Hurler Syndrome	Spastic paraparesis, Hearing impairment, Cerebral palsy, Splenomegaly, Abnormal pyramidal sign, A...	ORPHA:93473
Eisenmenger Syndrome	Lethargy, Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Noonan Syndrome 9	Prominent corneal nerve fibers, Prolonged prothrombin time	OMIM:616559
Syndromic Diarrhea	Recurrent infections, Panhypogammaglobulinemia, Trichorrhexis nodosa, Uncombable hair, Generalize...	ORPHA:84064
Trichohepatoenteric Syndrome 1	Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Generalized hypopigmentation, Brittle h...	OMIM:222470
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Abnormality of skin pigmentation, Hypoplastic fingernail	ORPHA:2457
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches	ORPHA:96061
Infantile Neuroaxonal Dystrophy	Cerebellar gliosis, Dystonia, Cerebellar atrophy, Aspiration pneumonia	ORPHA:35069
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Spastic paraparesis, Low-set, posteriorly rotated ears, Transien...	ORPHA:3132
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Nephropathy, Normocytic anemia, Skin rash, Proteinuria, Glomerular sclerosis, Normochr...	ORPHA:247691
Young-Onset Parkinson Disease	Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Dystonia	ORPHA:2828
Hyperparathyroidism, Transient Neonatal	Low-set ears, Unilateral renal agenesis, Splenic cyst, Enlarged kidney	OMIM:618188
Collagenoma, Familial Cutaneous	Sensorineural hearing impairment, Iris atrophy	OMIM:115250
Incontinentia Pigmenti	Alopecia, Ridged fingernail, Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic ...	ORPHA:464
Congenital Syphilis	Pneumonia, Keratitis, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, Synov...	ORPHA:499009
Acquired Von Willebrand Syndrome	Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib...	ORPHA:99147
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches	ORPHA:1647
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Low-set ears, Cataract, Tremor, Ataxia, Intention tremor	OMIM:614052
Postinfectious Vasculitis	Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ...	ORPHA:48435
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Cerebellar dysplasia, Cerebellar hypoplasia, Partial absence of cerebel...	OMIM:613150
Hereditary Pheochromocytoma-Paraganglioma	Conductive hearing impairment, Aniridia, Tremor, Paroxysmal vertigo, Vocal cord paralysis, Cerebr...	ORPHA:29072
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Pigmentary retinopathy, Peters anomaly, Sclerocornea, Iris coloboma	OMIM:309801
Roifman-Chitayat Syndrome	Pneumonia, Ectopic kidney, Arthritis	OMIM:613328
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Gliosis	OMIM:608033
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Viss Syndrome	Pulmonary artery aneurysm, Emphysema, Increased circulating IgE level, Decreased circulating IgA ...	OMIM:619472
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Gm1 Gangliosidosis Type 1	Low-set ears, Hearing impairment, Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosaminogl...	ORPHA:79255
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Cardiomegaly, Pleural effusion, Enlarged kidney	OMIM:261740
Cartilage-Hair Hypoplasia	Sparse eyebrow, Sparse hair, Abnormality of retinal pigmentation	ORPHA:175
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Cryptococcosis	Pneumonia, Abnormality of the outer ear, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleura...	ORPHA:1546
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper...	ORPHA:221008
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal...	OMIM:620296
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Distal Deletion 6P	Low-set ears, Hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon...	ORPHA:96125
Combined Oxidative Phosphorylation Deficiency 37	Spasticity, Cerebellar atrophy, Sensorineural hearing impairment, Cerebellar hypoplasia, Prolonge...	OMIM:618329
Timothy Syndrome	Pneumonia, Cardiomegaly, Bronchitis	OMIM:601005
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d...	OMIM:194080
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis, Hearing impairment, Recurrent urinary tract...	OMIM:612541
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Aspiration pneumonia, Left ventricular hypertrophy, Lacticaciduria, Hepatomegaly, Dyst...	OMIM:619167
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Abnormal bleeding, Bruising susceptibility, Lymphopenia, A...	ORPHA:99826
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of neutrophils...	ORPHA:36426
Localized Scleroderma	Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm...	ORPHA:90289
Alstrom Syndrome	Alopecia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Subcapsular cataract, Con...	OMIM:203800
Melas	Optic atrophy, Pigmentary retinopathy, Vitiligo, Hypertrichosis	ORPHA:550
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis, Pulmonary infiltrates	ORPHA:70578
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa...	OMIM:601104
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Brain abscess, Anuria, Septic arthritis, Pleuritis, Leu...	ORPHA:544482
Dubowitz Syndrome	Hearing impairment, Lymphoma, Eczematoid dermatitis, Low-set, posteriorly rotated ears, Sparse la...	ORPHA:235
Williams-Beuren Syndrome	Premature graying of hair, Incoordination, Recurrent otitis media, Large earlobe, Gait imbalance,...	OMIM:194050
Gapo Syndrome	Sparse eyebrow, Alopecia, Hypopigmented skin patches, Sparse eyelashes, Early balding	ORPHA:2067
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi...	ORPHA:199351
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper...	ORPHA:221016
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia	ORPHA:160
Wilson Disease	Poor motor coordination, Sunflower cataract, Hand tremor, Kayser-Fleischer ring, Limb dystonia, S...	OMIM:277900
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal...	ORPHA:95159
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia...	OMIM:219800
Combined Oxidative Phosphorylation Deficiency 25	Low-set ears, Cerebellar atrophy, Hypoplasia of the pons, Aspiration pneumonia, Sensorineural hea...	OMIM:616430
Oculo-Palato-Cerebral Syndrome	Cataract, Spasticity, Leukocoria, Thickened helices, Macrotia	ORPHA:2714
Alpha-Mannosidosis, Infantile Form	Pneumonia, Highly arched eyebrow, Chiari malformation, Cerebellar atrophy, Oligosacchariduria, Re...	ORPHA:309282
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob...	ORPHA:199241
Alagille Syndrome	Protruding ear, Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,...	ORPHA:79282
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular fi...	ORPHA:340
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Abnormal B cell morphology, Cupped ear, Ectopia pupillae, Aplasia of the thymus, Ov...	OMIM:618223
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
African Trypanosomiasis	Difficulty walking, Hepatosplenomegaly, Hemiparesis, Choreoathetosis, Involuntary movements, Soma...	ORPHA:3385
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Sialuria	Hyperkinetic movements, Low-set ears, Hepatosplenomegaly, Prolonged prothrombin time	ORPHA:3166
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Micropenis	ORPHA:98905
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Congenital Fibrosis Of Extraocular Muscles	Cataract, Congenital sensorineural hearing impairment, Abnormal pupil shape, Torticollis, Anisocoria	ORPHA:45358
Harrod Syndrome	Hypopigmented skin patches	ORPHA:2115
Classical Ehlers-Danlos Syndrome	Bruising susceptibility, Abnormal cornea morphology, Prolonged bleeding time, Ecchymosis	ORPHA:287
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal foveal morphology, Papi...	ORPHA:217085
Eec Syndrome	Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Generalized hypopigmentati...	ORPHA:1896
Mucopolysaccharidosis Type 2	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Retinal degeneration, Abnormal f...	ORPHA:580
Ablepharon Macrostomia Syndrome	Hearing impairment, Fine hair, Atresia of the external auditory canal, Breast hypoplasia, Absent ...	ORPHA:920
Rothmund-Thomson Syndrome, Type 3	Spotty hypopigmentation, Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair	OMIM:615789
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia	ORPHA:99772
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Marshall-Smith Syndrome	Low-set ears, Highly arched eyebrow, Recurrent upper respiratory tract infections, Bilateral cond...	OMIM:602535
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal foveal morphology, Papi...	ORPHA:217093
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy...	ORPHA:2330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy	OMIM:253700
1P36 Deletion Syndrome	Cataract, Conductive hearing impairment, Ocular albinism, Low-set, posteriorly rotated ears, Abno...	ORPHA:1606
Koolen-De Vries Syndrome	Abnormality of hair texture, Cataract, Hypopigmentation of hair	ORPHA:96169
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Hematuria, Neutropenia, Abnormal penis morphology, Acute ki...	ORPHA:95455
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Multiple lipomas, Seborrheic dermatitis, Enlarged kidney, Microtia	ORPHA:276280
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Tremor, Schistocytosis, Thrombocytopenia	OMIM:274150
Norrie Disease	Cataract, Abnormal helix morphology, Ectopia lentis, Hypoplasia of the iris, Macrotia, Abnormal p...	ORPHA:649
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eye...	ORPHA:2637
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Cardiac-Urogenital Syndrome	Accessory spleen, Scimitar anomaly, Penoscrotal hypospadias, Micropenis, Partial anomalous pulmon...	OMIM:618280
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hearing impairment, Aspiration pneumonia, Postural tremor, Splenomegaly, Sebo...	OMIM:301072
Facial Spasm	Anisocoria	OMIM:134300
Shwachman-Diamond Syndrome 2	Normocytic anemia, Low-set ears, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:617941
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Astigmatism, Persistence of hemoglobin F	OMIM:619769
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Recurrent bacterial infections, Nail dystrophy	OMIM:615895
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Retinal pigment epithelial mottling	OMIM:607459
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:255210
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Severe cytomegalovirus infection, Recurrent fungal infections...	OMIM:619573
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cataract, Gastrointestinal hemorrhage, Abnormal bleeding, Hepatosplenomegaly, Prolonged prothromb...	ORPHA:247598
3Q29 Microdeletion Syndrome	Low-set ears, Abnormality of skin pigmentation, Macrotia	ORPHA:65286
Lissencephaly Due To Lis1 Mutation	Cerebellar vermis hypoplasia, Opisthotonus, Aspiration pneumonia	ORPHA:95232
Leprechaunism	Low-set ears, Nephrocalcinosis, Long penis, Facial hypertrichosis, Hypertrichosis, Protruding ear...	ORPHA:508
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:277400
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Alagille Syndrome 1	Cataract, Pigmentary retinopathy, Microcornea, Band keratopathy, Chorioretinal atrophy, Axenfeld ...	OMIM:118450
Spondylocarpotarsal Synostosis Syndrome	Cataract, Abnormality of retinal pigmentation	OMIM:272460
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Pearson Syndrome	Cataract, Pigmentary retinopathy, Pancytopenia, Reticulocytosis, Splenomegaly, Corneal stromal ed...	ORPHA:699
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Cafe-au-lait spot	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Cafe-au-lait spot	ORPHA:363958
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Neuroleptic Malignant Syndrome	Acute kidney injury, Oculogyric crisis, Aspiration pneumonia, Leukocytosis, Tremor, Proteinuria, ...	ORPHA:94093
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Synophrys	OMIM:301066
Scorpion Envenomation	Mydriasis, Hemifacial spasm, Paresthesia, Myoclonus, Tremor, Hyperkinetic movements, Ataxia, Purpura	ORPHA:466677
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Thickened helices, Iridodonesis, Shallo...	OMIM:608328
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Alopecia, Recurrent respiratory infections, Hypoplastic fingernail, Abnormal hair morphology, Hyp...	ORPHA:2273
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia	ORPHA:99901
Adrenomyeloneuropathy	Spasticity, Progressive spastic paraparesis, Distal sensory impairment, Babinski sign, Spastic ga...	ORPHA:139399
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Subarachnoid hemorrhage, Abnormality iris morphology, Bruising susceptibility	ORPHA:91387
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Overfolded helix, Hypopigmentation of hair, Posteriorly rotated ears, Wido...	ORPHA:1974
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Abnormality of the urinary system, Chiari malformation, Conductive hearing impairment,...	ORPHA:353281
Focal Dermal Hypoplasia	Hypopigmentation of the skin, Supernumerary nipple, Ridged nail, Linear hyperpigmentation, Absent...	OMIM:305600
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections, Hearing impairment, Splenomegaly, Hirsut...	OMIM:253200
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Cystic Fibrosis	Hearing impairment, Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent...	ORPHA:586
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Decreased circulating ACTH concentration, I...	OMIM:620305
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal...	ORPHA:79277
Fanconi Anemia, Complementation Group A	Cafe-au-lait spot, Hearing impairment, Abnormality of skin pigmentation	OMIM:227650
Lipodystrophy, Familial Partial, Type 7	Cataract, Pigmentary retinopathy, Developmental cataract, Sparse hair, Sparse scalp hair	OMIM:606721
Retinoblastoma	Leukemia, Leukocoria, Vitreous hemorrhage	OMIM:180200
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation	ORPHA:747
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia	ORPHA:314655
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Thrombocytopenia, Cereb...	ORPHA:244242
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Endometrial carcinoma, Hyperpigmentation of the skin, Breast carcinoma	ORPHA:90790
Acrofrontofacionasal Dysostosis 1	Mixed hearing impairment, Iris atrophy	OMIM:201180
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Sclerocornea, Cataract, Microcornea, Ectopia pupillae	OMIM:615877
Kabuki Syndrome 1	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Lateral ventricle dilat...	OMIM:147920
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Chiari malformation, Small nail, Agenesis of corpus callosum, Absent eyelashes, Spa...	OMIM:264090
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hearing impairment, Aspiration pneumonia, Sensorineural hearing impairment, Abnormal toenail morp...	ORPHA:444077
Prader-Willi Syndrome	Frontal upsweep of hair, Generalized hypopigmentation	OMIM:176270
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypopigmentation of the skin, Melanocytic nevus, Thick eyebrow, Broad eyebrow, Abnormality of ski...	OMIM:619475
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Optic atrophy, Abnormal hemoglobin	ORPHA:847
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:618458
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Nail dystrophy, Dyst...	ORPHA:2907
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Low-set ears, Highly arched eyebrow, Abnormality of the urinary system, Chiari malform...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Low-set ears, Highly arched eyebrow, Abnormality of the urinary system, Chiari malform...	ORPHA:353277
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Sotos Syndrome	Small cell lung carcinoma, Hearing impairment, Small nail, Abnormality of the kidney, Acute lymph...	ORPHA:821
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Liver Disease, Severe Congenital	Dry hair, Recurrent otitis media, Pulmonary edema, Hepatomegaly, Hypospadias, Aminoaciduria, Ecze...	OMIM:619991
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatosplenomegaly, Abnormal neuron branching, Prolonged prothrombin time	ORPHA:367
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Xeroderma Pigmentosum	Alopecia, Hypopigmented skin patches, Melanocytic nevus, Freckling, Hypermelanotic macule	ORPHA:910
Lead Poisoning	Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology	ORPHA:330015
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Abnormal bleeding, Prolonged prothrombin time	OMIM:610842
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Low-set ears, Nephrocalcinosis, Abnormality of...	ORPHA:79500
Acute Liver Failure	Pain insensitivity, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Inco...	ORPHA:90062
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Hepatomegaly, Inflammatory abnormality of the skin	ORPHA:26793
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Cancer-Associated Retinopathy	Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app...	ORPHA:71505
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Lumbar hypertrichosis, Nail dystrophy, Low posterior hairline, Generalized h...	ORPHA:163956
Cholera	Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Aspiration pneumonia	ORPHA:173
Microphthalmia, Syndromic 2	Microcornea, Spastic paraparesis, Cupped ear, Asymmetry of the ears, Sensorineural hearing impair...	OMIM:300166
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a...	OMIM:306900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s...	OMIM:210720
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Spasticity, Broad-based gait, Hyphema, Ectopia pupillae, Recurrent otitis media, Enlarged cerebel...	ORPHA:261552
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:147060
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time	OMIM:618641
Wiedemann-Rautenstrauch Syndrome	Aplasia/Hypoplasia of the nails, Optic atrophy, Pigmentary retinopathy, Cataract, Optic disc hypo...	ORPHA:3455
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Episodic ataxia, Ataxia	OMIM:311250
Yellow Fever	Abnormal bleeding, Leukocytosis, Excessive bleeding after a venipuncture, Hematemesis, Internal h...	ORPHA:99829
Ring Chromosome 13 Syndrome	Alopecia, Abnormality of skin pigmentation, Posteriorly rotated ears, Macrotia, Cafe-au-lait spot	ORPHA:96176
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Myoclonus, Intraventricular hemorrhage, Clonus, Prolonged prothrombin time, Spastic tetraplegia	OMIM:619055
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Prolonged prothrombin time	OMIM:613070
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Generalized hypopigmentation	OMIM:619321
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Sensorineural hearing impairment	OMIM:614300
Kindler Syndrome	Spotty hypopigmentation, Ridged nail, Spotty hyperpigmentation	OMIM:173650
S-Adenosylhomocysteine Hydrolase Deficiency	Cerebellar hypoplasia, Hypoplasia of the pons, Prolonged prothrombin time	ORPHA:88618
Lysinuric Protein Intolerance	Recurrent bacterial infections, Decreased circulating antibody level, Increased circulating antib...	ORPHA:470
Ring Chromosome 7 Syndrome	Highly arched eyebrow, Prominent crus of helix, Low anterior hairline, Abnormality of skin pigmen...	ORPHA:1449
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Splenomegaly, Prolonged prothrombin time	OMIM:613812
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
Smith-Lemli-Opitz Syndrome	Optic atrophy, Cataract, Sclerocornea, Abnormal eyelash morphology, Hypopigmentation of hair, Iri...	ORPHA:818
Osteoporosis-Pseudoglioma Syndrome	Cataract, Absent anterior chamber of the eye, Iris atrophy	OMIM:259770
Alkaptonuria	Irregular hyperpigmentation, Methemoglobinemia, Corneal astigmatism, Abnormality of skin pigmenta...	ORPHA:56
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Supernumerary nipple	ORPHA:2896
Gardner Syndrome	Abnormality of skin pigmentation, Pilomatrixoma	ORPHA:79665
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Monosomy 13Q34	Hematochezia, Epistaxis, Abnormal earlobe morphology, Prolonged prothrombin time, Posteriorly rot...	ORPHA:96168
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Prolonged prothrombin time, Uveitis	ORPHA:171
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Fanconi Anemia	Irregular hyperpigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Abnormality...	ORPHA:84
Cowden Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:201
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Microcytic anemia, Recurrent otitis media, Splenomegaly, Thrombocytopenia, Prolonge...	OMIM:619525
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Decreased serum insulin-like growth factor 1, Prolonged prothrombin time	OMIM:614921
Plague	Inflammation of the large intestine, Lymphadenitis, Hearing impairment, Chapped lip, Splenomegaly...	ORPHA:707
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Aspiration pneumonia, Vesicoureteral reflux, Nephrolithiasis, Hydronephro...	ORPHA:438213
Pallister-Killian Syndrome	Hyperpigmented streaks, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Supernumerary nip...	OMIM:601803
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation	ORPHA:3063
Yunis-Varon Syndrome	Low-set ears, Aspiration pneumonia, Agenesis of corpus callosum, Sensorineural hearing impairment...	OMIM:216340
Isolated Biliary Atresia	Splenomegaly, Prolonged prothrombin time	ORPHA:30391
Semilobar Holoprosencephaly	Sensorineural hearing impairment, Limb dystonia, Agenesis of corpus callosum, Aspiration pneumonia	ORPHA:220386
Alobar Holoprosencephaly	Sensorineural hearing impairment, Limb dystonia, Agenesis of corpus callosum, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Sensorineural hearing impairment, Limb dystonia, Agenesis of corpus callosum, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Sensorineural hearing impairment, Limb dystonia, Agenesis of corpus callosum, Aspiration pneumonia	ORPHA:93924
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Aspiration pneumonia	OMIM:619482
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
Mend Syndrome	Spotty hypopigmentation	OMIM:300960
Pmm2-Cdg	Cerebellar vermis hypoplasia, Aspiration pneumonia, Macrotia, Cerebellar hypoplasia, Proteinuria,...	ORPHA:79318
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Microphthalmia, Syndromic 1	Microcornea, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, Iris coloboma	OMIM:309800
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Keratoconus, Abnormal bleeding, Bruising susceptibility, Vert...	ORPHA:286
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections	ORPHA:642

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
Ear - MPATH pathological process term inflammation	Lyst^{tm1b(EUCOMM)Wtsi}	HOM		Early adult
Eye - MPATH pathological process term developmental dysplasia	Lyst^{tm1b(EUCOMM)Wtsi}	HOM		Early adult

IMPC related publications

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

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.	Scientific reports (August 2019)	Lyst^{tm1b(EUCOMM)Wtsi}	PMC6672016

Order Mouse and ES Cells

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Lyst MGI:107448

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Combined SHIRPA and Dysmorphology

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

X-ray

Eye Morphology

X-ray

X-ray

Histopathology

X-ray

Human diseases caused by Lyst mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data