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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
abnormal coat/hair pigmentation	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.53×10^-25
increased fasting circulating glucose level	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.09×10^-05
abnormal retina morphology	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.40×10^-14
preweaning lethality, incomplete penetrance	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased locomotor activity	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.63×10^-07
increased mean corpuscular volume	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.63×10^-05
abnormal iris morphology	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.44×10^-17
increased mean corpuscular hemoglobin	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.03×10^-06
decreased prepulse inhibition	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.45×10^-05
increased grip strength	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.53×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

11 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

14 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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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 (1990 diseases)

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

Disease	Matching phenotypes	Source
Chediak-Higashi Syndrome	Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Spontaneous, r...	OMIM:214500
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormal platelet function, Hypopigmentation of the skin, Cerebell...	ORPHA:167
Attenuated Chédiak-Higashi Syndrome	Hypertonia, Abnormality of extrapyramidal motor function, Generalized hypopigmentation, Incoordin...	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	Freckling, Multiple cafe-au-lait spots	ORPHA:2678
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, 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	Albinism, Red hair, Partial albinism	OMIM:203290
Dowling-Degos Disease 3	Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules	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	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	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 hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia	OMIM:606574
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Hypopigmentat...	OMIM:103500
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	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, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty...	ORPHA:241
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ...	OMIM:617294
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Silver-gray hair, Melanin pigment aggregation in hair shafts, H...	OMIM:607624
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti...	OMIM:619165
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Immunodeficiency 20	BCGitis, Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract i...	OMIM:615707
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ata...	OMIM:616053
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus	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 foveal morphology on macular OCT, Aplasia/Hypoplasia of the macula, Abnormal fundus morp...	ORPHA:370097
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech	OMIM:160120
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
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, Tremor, Ataxia, Slurred speech	OMIM:613227
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Wiskott-Aldrich Syndrome 2	Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity	OMIM:614493
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Hypoplastic iris st...	OMIM:193510
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions	ORPHA:99000
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi...	OMIM:203200
Ataxia, Sensory, 1, Autosomal Dominant	Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di...	OMIM:608984
Spinocerebellar Ataxia 43	Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,...	OMIM:617018
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre...	OMIM:145250
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation	ORPHA:217012
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections, Alopecia	OMIM:114580
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Uns...	ORPHA:423275
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Monocyte Chemotactic Disorder	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:252250
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial 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	Impaired pain sensation, Sensorineural hearing impairment, Gait disturbance, Hemiplegia/hemipares...	ORPHA:2815
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Spinocerebellar Ataxia 37	Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ...	ORPHA:79435
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim...	ORPHA:98769
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Spinocerebellar Ataxia Type 38	Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction	ORPHA:423296
Oliver-Mcfarlane Syndrome	Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Retinal degeneration, Pigmenta...	OMIM:275400
Woolly Hair Nevus	Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po...	ORPHA:79414
Paraparetic Variant Of Guillain-Barré Syndrome	Impaired distal proprioception, Recurrent acute respiratory tract infection, Paraparesis	ORPHA:231445
Autosomal Recessive Spastic Paraplegia Type 43	Spastic gait, Babinski sign, Difficulty walking, Spasticity, Poor fine motor coordination, Impair...	ORPHA:320370
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata...	OMIM:614561
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
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	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Oculocutaneous Albinism Type 3	Blue irides, Optic nerve misrouting, Red hair, Hypopigmentation of the skin, Iris hypopigmentatio...	ORPHA:79433
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Pneumonia, Decreased circulating IgE, Decreased circulating IgG level, ...	OMIM:300400
Hyperkeratosis-Hyperpigmentation Syndrome	Irregular hyperpigmentation, Multiple cafe-au-lait spots	ORPHA:1336
Thumb Deformity And Alopecia	Increased groin pigmentation with raindrop depigmentation, Alopecia	OMIM:188150
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr...	OMIM:614372
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Deafness, Congenital, With Total Albinism	Hearing impairment, Albinism	OMIM:220900
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Retinopathy, Iris hypopigmentation, Partial albinism	ORPHA:79476
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ...	OMIM:617319
3-Methylglutaconic Aciduria Type 4	Dysgenesis of the cerebellar vermis, Spasticity, Hearing impairment, Iris hypopigmentation, Throm...	ORPHA:67048
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Oculocutaneous Albinism Type 1	Iris transillumination defect, Optic nerve misrouting, Abnormal morphology of the choroidal vascu...	ORPHA:352731
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Cerebellar Ataxia, Cayman Type	Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia...	ORPHA:94122
Immunodeficiency 35	Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ...	OMIM:611521
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Immunodeficiency 61	Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre...	OMIM:300310
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop...	OMIM:131960
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Alopecia, Mixed hypo...	ORPHA:79397
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Hypertrichosis Lanuginosa Congenita	Hearing impairment, Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Hypopigmentation of the skin, Recurrent bronchopulmonary infections	OMIM:610798
Spinocerebellar Ataxia Type 37	Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Cogwheel...	ORPHA:363710
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Insulin-Resistance Syndrome Type A	Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2297
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo...	OMIM:302800
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Alpers-Huttenlocher Syndrome	Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat...	ORPHA:726
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	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, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in...	OMIM:613495
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin...	OMIM:615157
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Usher Syndrome Type 1	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypo...	ORPHA:231169
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Usher Syndrome Type 3	Vestibular hypofunction, Astigmatism, Sensorineural hearing impairment, Abnormal cochlea morpholo...	ORPHA:231183
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epitheliu...	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	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ...	ORPHA:60033
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	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	Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401840
Spinocerebellar Ataxia 6	Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Truncal ataxia, Incoordination, ...	OMIM:183086
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Anonychia, Axillary and groin...	ORPHA:69125
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait...	OMIM:615768
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Optic nerve misrouting, Macular hypopigmentation, Hyp...	ORPHA:79432
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla...	OMIM:155100
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Astigmatism, Retinal pigment epithelial mottling	OMIM:300814
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat...	OMIM:613500
Spastic Paraparesis And Deafness	Cataract, Hearing impairment, Spastic paraparesis, Tremor	OMIM:312910
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti...	OMIM:606693
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin	OMIM:302000
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Incr...	OMIM:300291
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Immunodeficiency 38 With Basal Ganglia Calcification	Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:616126
Mast Syndrome	Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetosis, Cerebellar atr...	OMIM:248900
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig...	OMIM:608106
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Spinocerebellar Ataxia 35	Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell...	OMIM:613908
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	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	Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria	OMIM:617917
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Steppage gait, Distal sensory impairment, Paraparesis	OMIM:302802
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Sensorineural hearing impairment, Spontaneous, recu...	ORPHA:182050
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs...	ORPHA:89838
X-Linked Spinocerebellar Ataxia Type 4	Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor	ORPHA:85292
Migraine, Familial Hemiplegic, 1	Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Free Sialic Acid Storage Disease	Oculomotor apraxia, Spasticity, Athetosis, Gait disturbance, Abnormality of skin pigmentation, Ir...	ORPHA:834
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Spinocerebellar Ataxia Type 12	Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d...	ORPHA:98762
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
X-Linked Non Progressive Cerebellar Ataxia	Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo...	ORPHA:314978
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve...	ORPHA:284332
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Aspergillosis	Ground-glass opacification, Abnormality of the kidney, Hypersensitivity pneumonitis, Pleuritis, I...	ORPHA:1163
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance	ORPHA:67047
Eem Syndrome	Macular dystrophy, Sparse scalp hair, Absent eyebrow, Retinopathy, Sparse body hair, Abnormality ...	ORPHA:1897
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Impaired proprioception...	ORPHA:251282
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Resting t...	ORPHA:247234
Felty Syndrome	Chronic otitis media, Irregular hyperpigmentation, Sinusitis, Pericarditis, Bone marrow hypocellu...	ORPHA:47612
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Progressive cerebellar ataxia, Sensorineural hearing impairment, Dysdiadochokinesi...	ORPHA:504476
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Chediak-Higashi Syndrome	Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Spontaneous, r...	OMIM:214500
Spinocerebellar Ataxia 38	Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615957
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten...	ORPHA:101110
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor neuron morphology, Fa...	ORPHA:275872
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Astigmatism, Pigmentary retinopathy	OMIM:268060
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Spasticity, Decreased ci...	ORPHA:381
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections	OMIM:616022
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypertonia, Generalized hypopigmentation, White hair, Hearing impairment, Hypochromic anemia, Iri...	ORPHA:2720
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Chronic decreased circulating total IgG, Recurrent sinusitis, Reduced iso...	OMIM:613493
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait	OMIM:616921
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Limb ataxia, Hearing abnormality, Impaired pain sensation, Cerebellar vermis atrophy, Positive Ro...	OMIM:614575
Friedreich Ataxia	Limb ataxia, Babinski sign, Impaired proprioception, Gait imbalance, Inability to walk, Falls, Ch...	ORPHA:95
Spinocerebellar Ataxia Type 35	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb...	ORPHA:276193
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Hyperpigmentation of th...	ORPHA:189
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of...	ORPHA:79399
Griscelli Syndrome Type 2	Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Iris hypopig...	ORPHA:79477
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired...	OMIM:273800
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Abnormality of retinal pigmentation, Uncombable hair, Sparse hair	ORPHA:1264
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l...	OMIM:610245
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai...	OMIM:616948
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e...	OMIM:618986
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Abnormal foveal morphology, Retina...	ORPHA:85128
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d...	OMIM:615559
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling	OMIM:551500
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati...	OMIM:613502
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616187
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Decreased circulating IgG level, Recurrent viral infections, Recurrent ...	ORPHA:275
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to...	OMIM:613496
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p...	OMIM:251270
Autosomal Recessive Spastic Paraplegia Type 67	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Aplasia/Hypo...	ORPHA:401820
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis	OMIM:604571
Dystonia 23	Writer's cramp, Torticollis, Axial dystonia, Cerebellar atrophy, Limb dystonia, Head tremor, Gait...	OMIM:614860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Decreased circulating antibody level, Abnormal natura...	OMIM:613101
Spinocerebellar Ataxia 27A	Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Gait ataxia, Postural tremor, ...	OMIM:193003
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I...	ORPHA:999
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall...	OMIM:607317
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop...	ORPHA:1067
Spinocerebellar Ataxia 18	Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria	OMIM:607458
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Emphysema, Recurrent bronchopulmonary infections, Rec...	OMIM:242700
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ...	OMIM:607483
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Absent platelet dense granules, Impaired ADP-induced platelet aggr...	OMIM:614074
X-Linked Recessive Ocular Albinism	Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Hypoplasia of the fovea, Fr...	ORPHA:54
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Premature graying of hair, Reticular pattern on pulmonary HRCT, Anemia, Pancytop...	OMIM:614742
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Cerebellar atrophy, Dec...	ORPHA:2585
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Developmental glaucoma, Developmental cataract, Paraparesis	ORPHA:101005
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia	ORPHA:309169
Usher Syndrome	Astigmatism, Sensorineural hearing impairment, Abnormal vestibular function, Abnormality of retin...	ORPHA:886
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent sinusitis, Recurrent pneumonia, Decreased circulating ...	OMIM:619281
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor...	OMIM:302500
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Crystalline corneal dystroph...	ORPHA:41751
Amyloidosis, Primary Localized Cutaneous, 3	Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Albinism, Adult onset sensorineural hearing impairment	OMIM:300650
Hermansky-Pudlak Syndrome 11	Iris transillumination defect, Reduced platelet dense granules, Hypoplasia of the fovea, Melanocy...	OMIM:619172
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Oromotor apraxia...	OMIM:617854
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Spastic Ataxia 4, Autosomal Recessive	Limb ataxia, Babinski sign, Gait ataxia, Lower limb hypertonia, Spastic ataxia, Spastic parapares...	OMIM:613672
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop...	ORPHA:3240
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio...	OMIM:613501
Bernard-Soulier Syndrome	Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno...	OMIM:231200
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid...	ORPHA:98763
Spastic Paraplegia 48, Autosomal Recessive	Spastic gait, Tip-toe gait, Lower limb spasticity, Broad-based gait, Spastic paraplegia, Ataxia, ...	OMIM:613647
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign...	ORPHA:79262
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79431
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Distal sensory impairment, Difficulty walking	OMIM:615048
Ficolin 3 Deficiency	Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat...	OMIM:613860
Glanzmann Thrombasthenia 2	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D...	OMIM:619267
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Sparse hair, Retinal degeneration, Pigmentary retinopathy, Alopecia	ORPHA:3363
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Atelectasis, Agenesis of corpus callosum, Bronchiectasis, Recurrent respira...	OMIM:619466
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Urocanic Aciduria	Broad-based gait, Recurrent infections, Truncal ataxia, Gait ataxia, Action tremor, Ataxia	ORPHA:210128
Loose Anagen Syndrome	Abnormal hair whorl, Abnormal hair morphology, Iris coloboma	ORPHA:168
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall...	OMIM:611302
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Leber Congenital Amaurosis 2	Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara...	OMIM:204100
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Macrocytic anemia, Paraparesis, Ataxia, Leukopenia, Thrombocytopenia, Choreoathetosis, Te...	ORPHA:27
Phenylketonuria	Cataract, Generalized hypopigmentation, Blue irides, Fair hair	OMIM:261600
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic...	OMIM:128230
Lichtenstein-Knorr Syndrome	Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti...	OMIM:616291
Immunodeficiency 81	Recurrent infections, Reduced antigen-specific T cell proliferation, Impaired collagen-induced pl...	OMIM:619374
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot...	ORPHA:411527
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Essential Thrombocythemia	Acute leukemia, Abnormal bleeding, Vertigo, Leukocytosis, Abnormality of thrombocytes, Abnormal p...	ORPHA:3318
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Gait disturbance	OMIM:611808
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus	OMIM:618876
Uv-Sensitive Syndrome 1	Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo...	OMIM:604326
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Premature graying of hair, Nail dystrophy, Pancytopenia, Decreased circulating antibody level, Re...	OMIM:619767
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta...	ORPHA:79127
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage, Spasticity, Tremor, Ataxia, Cataract	OMIM:278780
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem...	OMIM:611040
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for...	OMIM:148820
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech	OMIM:609161
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Late-Onset Retinal Degeneration	Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina...	ORPHA:67042
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleedin...	OMIM:614076
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni...	OMIM:612692
Dystonia 3, Torsion, X-Linked	Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Epidermolysis Bullosa Acquisita	Nail dystrophy, Abnormal hair morphology, Hyperpigmentation of the skin	ORPHA:46487
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni...	OMIM:300636
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ...	OMIM:614201
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Melanocytic nevus, Ap...	ORPHA:1818
Peroxisome Biogenesis Disorder 8B	Tip-toe gait, Babinski sign, Hypertonia, Lower limb spasticity, Cerebellar vermis atrophy, Dysest...	OMIM:614877
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic tetraparesis, Cerebellar atrophy, Spastic ataxia, Progressive spastic paraparesis	ORPHA:496756
Albinism, Oculocutaneous, Type Ia	Blue irides, Astigmatism, Hypopigmentation of hair, White hair, Hypoplasia of the fovea, Albinism...	OMIM:203100
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Chronic bronchitis, Panacinar emphysema	OMIM:613490
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S...	ORPHA:254343
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Aplastic anemia, Premature graying of hair, Pancytopenia, Bone marrow hypocellularity, Pulmonary ...	OMIM:614743
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Ridged f...	ORPHA:2251
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Distal sensory impairment, Impaired tactile sensation, Resting tremo...	OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ...	OMIM:213200
Riboflavin Transporter Deficiency	Progressive hearing impairment, Tremor, Iris hypopigmentation, Ataxia, Myoclonus	ORPHA:97229
Bronchopulmonary Dysplasia	Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis	ORPHA:70589
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor, Loss of ambulation	OMIM:182980
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, Lymphopenia, Eczematoid dermatitis, T...	OMIM:619510
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ...	ORPHA:1390
Autosomal Dominant Spastic Paraplegia Type 73	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Impaired vibration sensat...	ORPHA:444099
Porphyria Cutanea Tarda, Type I	Hypertrichosis, Hyperpigmentation of the skin	OMIM:176090
Optic Atrophy 3, Autosomal Dominant	Cataract, Hearing impairment, Abnormality of extrapyramidal motor function, Tremor	OMIM:165300
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Apraxia, Tetraparesis, Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Abnormal lower motor...	OMIM:105550
Non-Syndromic Genetic Deafness	Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor...	ORPHA:87884
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi...	OMIM:618613
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Leukonychia, Beau's lines	OMIM:234580
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar...	ORPHA:521406
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir...	OMIM:611584
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin...	ORPHA:3261
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Cerebellar dentate...	OMIM:213600
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Premature graying of hair, Abnormal pulmonary interstitial morphology, Nail dysp...	OMIM:613990
Interstitial Lung Disease 2	Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil proportion...	OMIM:178500
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Plasmacytosis, Ground-glass opacification	ORPHA:60026
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga...	OMIM:618090
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Sensorineural hearing impairment, Iris cyst	OMIM:620086
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Morning Glory Disc Anomaly	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma	ORPHA:35737
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Premature graying of hair, Nail dysplasia, Nail dystrophy, Cerebellar hypoplasia...	OMIM:613989
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Bornholm Eye Disease	Optic nerve hypoplasia, Astigmatism, Abnormality of retinal pigmentation	OMIM:300843
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Spotty hyperpigmen...	ORPHA:79133
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema	ORPHA:1164
X-Linked Charcot-Marie-Tooth Disease Type 3	Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen...	ORPHA:101077
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron...	OMIM:616726
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria	OMIM:608029
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Chronic sinus...	OMIM:300455
C1Q Deficiency 2	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Anemia, Malar ...	OMIM:620321
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormal platelet function, Hypopigmentation of the skin, Cerebell...	ORPHA:167
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia...	ORPHA:284324
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613266
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Premature graying of hair, Nail dystrophy, Anemia, Cerebellar hypoplasia, Ridged...	OMIM:127550
Spastic Paraplegia 75, Autosomal Recessive	Spastic gait, Babinski sign, Astigmatism, Spastic dysarthria, Spasticity, Cerebellar atrophy, Imp...	OMIM:616680
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid...	ORPHA:454887
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair, Honeycomb lung, Pulmonary fibrosis	OMIM:616371
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,...	ORPHA:3214
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base...	OMIM:610185
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b...	OMIM:612387
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Cerebellar atrophy, Gait disturbance, Ac...	OMIM:300423
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:600363
Urocanase Deficiency	Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria	OMIM:276880
Retinitis Pigmentosa 46	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Acute Interstitial Pneumonia	Ground-glass opacification, Reduced hematocrit, Atelectasis, Pleural effusion, Parenchymal consol...	ORPHA:79126
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Nail dystrophy, Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG ...	ORPHA:98813
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukopenia, Leukemia, Pulmonary fibrosis	OMIM:620400
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu...	OMIM:240500
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Hypopigmentation of hair, Abnormality of extrapyramidal motor function, Dandy-Walker malf...	ORPHA:2719
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:51636
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma...	OMIM:607616
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria	OMIM:618387
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Iron deficiency anemia, Pul...	OMIM:178550
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Splenomegaly, Enlarged...	OMIM:608233
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,...	OMIM:615386
Autosomal Recessive Spastic Paraplegia Type 70	Nephrotic syndrome, Abnormal pulmonary interstitial morphology, Hand tremor	ORPHA:401835
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent fall...	ORPHA:216873
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance...	OMIM:617145
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ...	ORPHA:464440
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Abnormal pulmonary thoracic imaging finding, Atelectasis, Increased...	ORPHA:2902
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A...	ORPHA:79402
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ...	OMIM:614831
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia	ORPHA:79411
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Immunodeficiency 116	Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections	OMIM:608957
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Dystonia 28, Childhood-Onset	Tip-toe gait, Astigmatism, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, ...	OMIM:617284
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
Primary Angiitis Of The Central Nervous System	Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis	ORPHA:140989
Alopecia Totalis	Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis	ORPHA:700
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Spinocerebellar Ataxia, Autosomal Recessive 17	Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ...	OMIM:616127
Idiopathic Pulmonary Fibrosis	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Reticular pattern on pulm...	ORPHA:2032
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding	OMIM:608404
Developmental And Epileptic Encephalopathy 82	Inability to walk, Cerebellar vermis hypoplasia, Recurrent infections, Spastic tetraplegia, Spast...	OMIM:618721
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Crohn's disease, Acute pancreatitis, Pleural effusion, Lymphadenitis, Eczematoi...	OMIM:618935
Usher Syndrome Type 2	Abnormality of the inner ear, Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Ca...	ORPHA:231178
Immunodeficiency 112	BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis...	OMIM:620449
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrophy, Gait ata...	OMIM:615362
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Dystonia 27	Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo...	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, Nail dystrophy, Emphysema, Anemia, Squamous cell carcinoma of the skin...	OMIM:620365
Slc35A1-Cdg	Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc...	ORPHA:238459
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis	OMIM:615924
Glutathione Synthetase Deficiency	Hemolytic anemia, Pigmentary retinopathy, Neutropenia	OMIM:266130
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Impaired tandem gait, Dysme...	OMIM:619028
Immunodeficiency 89 And Autoimmunity	Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla, Increased circ...	OMIM:619632
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ...	OMIM:613581
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Chronic Beryllium Disease	Ground-glass opacification, Hypersensitivity pneumonitis, Abnormal proportion of CD4-positive T c...	ORPHA:133
Asbestos Intoxication	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele...	ORPHA:2302
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ...	OMIM:616795
Spinocerebellar Ataxia Type 28	Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dyston...	ORPHA:101109
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation	OMIM:613216
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Sensorineural hearing impairment, Tremor, Adult onset sensorineural hearing impairmen...	ORPHA:1368
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis	OMIM:615872
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Ocular...	OMIM:614171
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal...	OMIM:616959
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti...	OMIM:611926
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Dysmetria	OMIM:617916
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Decreased circulating antibody level, Recurrent fungal infections, Re...	OMIM:616873
Dystonia 22, Juvenile-Onset	Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph...	OMIM:620453
Fanconi Renotubular Syndrome 5	Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f...	OMIM:618913
Diffuse Alveolar Hemorrhage	Ground-glass opacification, Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Pulmo...	ORPHA:90060
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Sensorineural hearing impairment...	ORPHA:3226
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parkinsonism, D...	OMIM:618093
Glanzmann Thrombasthenia	Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi...	ORPHA:849
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis, Tremor, Cerebellar dysplasia, Macrotia, Pulmonary fibrosis, Micropenis	ORPHA:457240
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R...	OMIM:617304
Edinburgh Malformation Syndrome	Hirsutism, Low posterior hairline, Synophrys, Generalized hirsutism, Brushfield spots	ORPHA:1895
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation...	ORPHA:158681
Leber Congenital Amaurosis 1	Keratoconus, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P...	OMIM:204000
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Spastic Paraplegia 46, Autosomal Recessive	Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Impaired ...	OMIM:614409
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto...	OMIM:618173
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Autosomal Spastic Paraplegia Type 58	Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ...	ORPHA:397946
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Cyanide-Induced Parkinsonism-Dystonia	Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl...	ORPHA:306692
Autosomal Dominant Spastic Paraplegia Type 6	Babinski sign, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Impaired vibratory se...	ORPHA:100988
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ...	ORPHA:453521
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking	OMIM:158580
Hypotrichosis With Juvenile Macular Degeneration	Brittle hair, Sparse scalp hair, Melanocytic nevus, Fine hair, Freckling, Pili torti	ORPHA:1573
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Abnormal antihelix morphology, Cafe-au-lait spot, Unsteady gait, Protruding ear, Spastic parapare...	ORPHA:3041
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Tip-toe gait, Oromandibular dystonia, Gait disturbance, Rigidity, Dystonia, Spastic...	OMIM:615643
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu...	ORPHA:98764
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Anemia, Malar rash, Myositis, Skin rash, Increased circulating IgG level, Lymphop...	OMIM:615934
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce...	ORPHA:512260
Lower Motor Neuron Syndrome With Late-Adult Onset	Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa...	ORPHA:276435
Retinitis Pigmentosa 43	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ...	OMIM:613810
Idiopathic Pulmonary Hemosiderosis	Ground-glass opacification, Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency an...	ORPHA:99931
Spastic Ataxia 5, Autosomal Recessive	Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dystonia, Ataxia, Spastic...	OMIM:614487
Dystonia 16	Bradykinesia, Torticollis, Limb dystonia, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, P...	ORPHA:210571
Bleeding Disorder, Platelet-Type, 18	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men...	OMIM:615888
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Netherton Syndrome	Emphysema, Recurrent infections, Increased circulating IgE level, Decreased circulating antibody ...	ORPHA:634
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	Nail dysplasia, Hepatomegaly, Sparse eyelashes, Erysipelas, Sparse eyebrow, Pulmonary fibrosis, A...	OMIM:615704
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Cerebellar atrophy, Craniofacial dystonia, Limb dyston...	ORPHA:71517
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Red hair, Fair hair	OMIM:614613
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ground-glass opacification, Atelectasis, Parenchymal consolidation, Elevated bronchoalveolar lava...	OMIM:610978
Primary Dystonia, Dyt13 Type	Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu...	ORPHA:98807
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull...	OMIM:180105
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast...	OMIM:616719
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
X-Linked Adrenoleukodystrophy	Paralysis, Incoordination, Gait disturbance, Paraparesis, Hemiparesis, Progressive spastic parapa...	ORPHA:43
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebrow morphology, Generaliz...	ORPHA:1816
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Recurrent bacterial infect...	OMIM:193670
Spinocerebellar Ataxia 50	Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi...	OMIM:620158
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism	OMIM:300500
Tonne-Kalscheuer Syndrome	Spasticity, Tremor, Blue irides, Broad-based gait	OMIM:300978
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Astigmatism, Silver-gray hair, Myopic astigmatism, Generalized hyp...	OMIM:614077
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Vitr...	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, Tremor, Ataxia, Limb dystonia	OMIM:620270
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi...	OMIM:117360
Neovascular Glaucoma	Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal...	ORPHA:94058
Ramon Syndrome	Abnormal anterior chamber morphology, Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Bare Lymphocyte Syndrome, Type Ii	Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i...	OMIM:209920
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee...	OMIM:600116
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ...	OMIM:104100
Spinocerebellar Ataxia 19	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity...	OMIM:607346
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency With Hyper-Igm, Type 4	Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ...	OMIM:608184
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A...	OMIM:602772
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Dystrophic fingernails, Atelectasis, Abnormal hair morphology, Skin rash, I...	ORPHA:2314
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Sensorineural hearing impairment, Abnormality of neutrophils	ORPHA:2690
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Hepatomegaly, Hemolytic-uremic syndrome, Recurrent lo...	OMIM:619644
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent bronchit...	OMIM:300853
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysto...	ORPHA:313772
Joubert Syndrome 28	Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Spastic Paraplegia 5A, Autosomal Recessive	Spastic gait, Babinski sign, Lower limb spasticity, Impaired distal proprioception, Sensorineural...	OMIM:270800
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, Nail dystrophy, Ridged nail, T lymphocytopenia, Nail pits, Al...	OMIM:601705
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Tremor, Ataxia, Gait disturbance	ORPHA:101075
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Nail dysplasia, Recurrent infections, Sparse scalp hair, Abnormality of skin pigmentation, Sparse...	OMIM:225050
Ataxia-Pancytopenia Syndrome	Babinski sign, Distal sensory impairment, Anemia, Pancytopenia, Impaired vibration sensation in t...	OMIM:159550
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	Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni...	OMIM:615528
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Retinal detachment, Low posterior hairline, Iris hypopigmentation...	ORPHA:85194
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Uncombable Hair Syndrome 3	Curly hair, Uncombable hair, Pili canaliculi, Brittle hair	OMIM:617252
Hereditary Mucoepithelial Dysplasia	Hematuria, Abnormality of the bladder, Sparse hair, Pulmonary fibrosis, Recurrent respiratory inf...	ORPHA:1839
Bone Marrow Failure Syndrome 5	Nail dystrophy, Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Pure red cell...	OMIM:618165
Ceroid Lipofuscinosis, Neuronal, 5	Dysdiadochokinesis, Cerebellar atrophy, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clums...	OMIM:256731
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Recurrent bronchitis, Impaired T cell function, Decreased circulating IgG...	OMIM:607594
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Atypical Juvenile Parkinsonism	Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta...	ORPHA:391411
Glycosylphosphatidylinositol Biosynthesis Defect 15	Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cerebellar hypop...	OMIM:617810
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Chiari type I malformation, Tremor, Rigidity, Dystonia, Ataxia	OMIM:617836
Stxbp1-Related Encephalopathy	Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia	ORPHA:599373
Adrenoleukodystrophy	Limb ataxia, Impaired vibration sensation at ankles, Incoordination, Truncal ataxia, Paraparesis,...	OMIM:300100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Panhypogammaglobulinemia,...	ORPHA:79124
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis	OMIM:613779
Waardenburg Syndrome, Type 1	Premature graying of hair, Heterochromia iridis, Synophrys, White forelock, Hypoplastic iris stro...	OMIM:193500
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:3239
Scedosporiosis	Pleuritis, Bronchitis, Abnormal renal morphology, Pleural empyema, Apical pulmonary opacity, Sinu...	ORPHA:449280
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Broad-based gait, Microcornea, Tiger tail banding, Increased HbA...	OMIM:616943
Alexander Disease	Babinski sign, Abnormal dentate nucleus morphology, Spasticity, Microcoria, Ataxia, Dysmetria, Pa...	OMIM:203450
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism	OMIM:128235
Wyburn-Mason Syndrome	Gingival bleeding, Cerebral palsy, Hearing impairment, Hemiparesis, Iris hypopigmentation, Epista...	ORPHA:53719
Behr Syndrome	Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Progressive...	OMIM:210000
Hermansky-Pudlak Syndrome 4	Absent platelet dense granules, Albinism, Hypoplasia of the fovea, Ocular albinism	OMIM:614073
Porphyria Cutanea Tarda	Onycholysis, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Alopecia	OMIM:176100
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:615285
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus	OMIM:614018
Sjögren-Larsson Syndrome	Corneal erosion, Macular degeneration, Retinopathy, Abnormality of retinal pigmentation, Generali...	ORPHA:816
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Arachnoid Cyst	Mydriasis, Distal sensory impairment, Inability to walk, Vertigo, Gait disturbance, Paraparesis, ...	ORPHA:2356
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Nail dystrophy, Ridged nail, Oropharyngeal squamous cell carcinoma, Ho...	OMIM:305000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Ataxia	OMIM:613839
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Idiopathic Trachyonychia	Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ...	ORPHA:79153
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Abnormality of skin pig...	ORPHA:218
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Fusariosis	Pulmonary opacity, Sinusitis, Granuloma, Lymphopenia, Neutropenia, Abnormality of the kidney, Hyp...	ORPHA:228119
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Von Willebrand Disease, Type 3	Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Menorrhagia, Joint hem...	OMIM:277480
Rift Valley Fever	Hematemesis, Abnormal bleeding, Anemia, Melena, Increased circulating IgG level, Decerebrate rigi...	ORPHA:319251
Bone Marrow Failure Syndrome 3	Aplastic anemia, Nail dystrophy, Astigmatism, Anemia, Acute myeloid leukemia, Retinal dystrophy, ...	OMIM:617052
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616494
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Bronchiolitis, Pulmonary fibrosis	ORPHA:254361
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin, Melanocytic nevus	ORPHA:3319
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c...	ORPHA:363654
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Tremor, Ataxia, Gait disturbance	ORPHA:101078
Obesity And Hypopigmentation	Red hair	OMIM:620195
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Lymphoid Interstitial Pneumonia	Ground-glass opacification, Centrilobular ground-glass opacification on pulmonary HRCT, Enlarged ...	ORPHA:79128
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Oculocutaneous Albinism Type 5	Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism	ORPHA:370091
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Angelman Syndrome Due To A Point Mutation	Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy...	ORPHA:411511
Primary Dystonia, Dyt2 Type	Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt...	ORPHA:99657
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Hsd10 Disease	Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis	ORPHA:391417
Hermansky-Pudlak Syndrome 6	Iris transillumination defect, Absent platelet dense granules, Hypopigmentation of the skin, Impa...	OMIM:614075
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Freckling, Hypoplastic toenails	ORPHA:1547
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, Lymphopenia, Nasal polyposis, Bronchiectasis, T lympho...	OMIM:615518
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71526
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Cofs Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At...	OMIM:618195
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn...	OMIM:247800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Hypopigmentation of hair, Broad-based gait, Tremor, Hypopigmentation of the skin,...	ORPHA:98794
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent upper res...	ORPHA:922
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida...	ORPHA:139485
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar...	ORPHA:364055
Angelman Syndrome	Broad-based gait, Hypopigmentation of the skin, Limb tremor, Ataxia, Progressive gait ataxia, Clu...	OMIM:105830
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation, Pulmonary fibrosis	ORPHA:220402
Tremor, Hereditary Essential, 1	Action tremor, Hand tremor, Postural tremor	OMIM:190300
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc...	OMIM:312863
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia, Abnormal pleura morphology, Pu...	ORPHA:210136
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever...	ORPHA:319552
Spastic Paraplegia 20, Autosomal Recessive	Spastic gait, Babinski sign, Difficulty walking, Impaired vibration sensation at ankles, Lower li...	OMIM:275900
Phenylketonuria	Hypopigmentation of the skin	ORPHA:716
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Hypertonia, Anemia, Hemophagocytosis, Pancytopenia, Tetraplegia, Atax...	OMIM:603553
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Spinocerebellar Ataxia 27B, Late-Onset	Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia	OMIM:620174
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar...	ORPHA:98773
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Cataract, Pigmentary retinopathy	OMIM:614307
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin...	ORPHA:244
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Recurrent bronchopulmonary infections, Low posterior hairline, Bone marrow hypoc...	OMIM:617303
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor...	ORPHA:1170
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Hypopigmentation of the skin, Abnormality of hair texture	OMIM:601957
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Action tremor, Dystonia, ...	OMIM:619738
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, A...	OMIM:145350
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Gastritis, Pleuritis, Myos...	ORPHA:809
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const...	OMIM:600132
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro...	ORPHA:137898
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Specific Granule Deficiency 2	Nail dysplasia, Sepsis, Recurrent otitis media, Abnormal pinna morphology, Hirsutism, Low-set ear...	OMIM:617475
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair, Sparse hair	ORPHA:1810
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal detachment, Microcornea, Retinal arteriolar occlusion, Developmental...	OMIM:193220
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:188025
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Difficulty walking, Myoclonus	OMIM:613608
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Diffuse alveolar ...	OMIM:616050
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F...	ORPHA:2590
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Increased circulating IgG level,...	ORPHA:276
Deafness, Autosomal Recessive 103	Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia	OMIM:616042
Deafness, Congenital, With Vitiligo And Achalasia	Hearing impairment, Vitiligo	OMIM:221350
Immunodeficiency 10	Increased circulating IgG3 level, Nail dysplasia, Sepsis, Recurrent otitis media, Recurrent infec...	OMIM:612783
Gray Platelet Syndrome	Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu...	OMIM:139090
Infantile Neuronal Ceroid Lipofuscinosis	Chorea, Spasticity, Tremor, Cerebellar atrophy, Poor fine motor coordination, Myoclonic spasms, D...	ORPHA:79263
Braddock Syndrome	Unilateral renal agenesis, Abnormal hair pattern, Posteriorly rotated ears, Pulmonary fibrosis, O...	ORPHA:52047
Familial Dyskinesia And Facial Myokymia	Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus	ORPHA:324588
Immunodeficiency 104	Recurrent otitis media, Hepatomegaly, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, T...	OMIM:608971
3-Methylglutaconic Aciduria, Type Viib	Prolonged prothrombin time, Abnormal bleeding, Hyperkinetic movements, Spasticity, Tremor, Cerebe...	OMIM:616271
X-Linked Intellectual Disability, Hedera Type	Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ...	ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive 7	Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax...	OMIM:609270
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Arterial Dissection-Lentiginosis Syndrome	Melanocytic nevus	ORPHA:1682
Uncombable Hair Syndrome 1	Uncombable hair, Pili canaliculi, Dry hair	OMIM:191480
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Hypophosphatasia	Emphysema	ORPHA:436
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Difficulty walking, Tongue fasciculations, Tremor, Frequent falls, Myoclonus, Degeneration of ant...	OMIM:159950
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal dystrophy, Atten...	OMIM:617547
Waardenburg Syndrome Type 3	White hair, Hearing impairment, Atelectasis, Thick eyebrow	ORPHA:896
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Dystonia 11, Myoclonic	Writer's cramp, Tremor, Torticollis, Myoclonus	OMIM:159900
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Surfactant Metabolism Dysfunction, Pulmonary, 2	Ground-glass opacification, Intraalveolar phospholipid accumulation, Nonspecific interstitial pne...	OMIM:610913
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype...	OMIM:617021
Prune1-Related Neurological Syndrome	Inability to walk, Tongue fasciculations, Spastic tetraparesis, Cerebellar atrophy, Low-set ears,...	ORPHA:544469
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Chromosomal breakage induced b...	ORPHA:420741
Spinocerebellar Ataxia, Autosomal Recessive 32	Bradykinesia, Limb ataxia, Torticollis, Cerebellar atrophy, Gait ataxia, Limb myoclonus, Somatic ...	OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Cerebellar atrophy, Titubation, Ataxia, Unsteady gait, Dysmetria	OMIM:619405
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc...	OMIM:183090
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Spasticity, Tremor	OMIM:609260
Spastic Paraplegia 23, Autosomal Recessive	Premature graying of body hair, Multiple lentigines, Hyperpigmentation in sun-exposed areas, Viti...	OMIM:270750
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Adult Krabbe Disease	Hoffmann sign, Babinski sign, Acroparesthesia, Progressive spastic paraparesis, Impaired tactile ...	ORPHA:206448
Late-Infantile/Juvenile Krabbe Disease	Acroparesthesia, Difficulty walking, Lower limb spasticity, Impaired tactile sensation, Tetrapleg...	ORPHA:206443
Frontofacionasal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Absent inner eyelashes, Microcornea, Brushfield spots, Catarac...	ORPHA:1791
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris,...	OMIM:249310
Purine Nucleoside Phosphorylase Deficiency	Hypertonia, Recurrent respiratory infections, Recurrent infections, Spasticity, Cerebral palsy, A...	ORPHA:760
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ...	OMIM:618049
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Chronic rhinit...	OMIM:244400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Truncal ataxia, Spasticity, Dysdiadochokinesis, Clonus, Spastic paraplegia, Poor co...	OMIM:238970
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Immunodeficiency 115 With Autoinflammation	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Par...	OMIM:620632
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis	ORPHA:329284
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent candida infections, Acute otitis media, Recurrent Staphylococcus aureus infections, Pan...	ORPHA:572
Microlissencephaly	Pneumonia, Cerebellar atrophy	ORPHA:1083
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Chronic otitis media, Abnormal platelet function, Abnormal pl...	ORPHA:906
Laurence-Moon Syndrome	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Usher Syndrome, Type Ie	Congenital sensorineural hearing impairment, Vestibular areflexia	OMIM:602097
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Usual interstitial pneumonia, Splen...	OMIM:620367
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Small nail, Hyperpigmentation of the skin, Brittle hair, Absent p...	OMIM:129500
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga...	OMIM:616710
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig...	ORPHA:53351
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Inflammation of the larg...	OMIM:203300
Immunodeficiency 110 With Lymphoproliferation	Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo...	OMIM:614868
Parkinson Disease 17	Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Immunodeficiency 102	Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ...	OMIM:301082
Retinitis Pigmentosa 37	Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Rod-cone dystroph...	OMIM:611131
Mitochondrial Membrane Protein-Associated Neurodegeneration	Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Frequent falls, Gait disturbance, Rigidi...	ORPHA:289560
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrophy, Dystonia	ORPHA:330050
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Nail dystrophy, Pterygium of nails, Pancytopenia, Hyperpigmentation of the skin,...	OMIM:224230
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b...	OMIM:616469
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:98870
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Babinski sign, Impaired proprioception, Impaired vibration sensation at ankles, Lo...	OMIM:615491
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Heteroc...	ORPHA:90646
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Decreased circulating antibody level, Vitiligo, Absent specif...	OMIM:619846
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy, Sparse hair	OMIM:268020
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:613464
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Dysgammaglobulinemia, Pneumocystis carinii pneumonia, Sepsis, Decreased...	OMIM:308230
Complement Factor B Deficiency	Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections	OMIM:615561
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:173420
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dyst...	OMIM:617435
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Dystonia, Loss of ambulation, Splenomegaly, Thrombocytopenia, Hemolytic anemia	OMIM:615010
Hermansky-Pudlak Syndrome	Astigmatism, Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic ...	ORPHA:79430
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent S...	ORPHA:83471
4H Leukodystrophy	Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Upp...	ORPHA:289494
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Hepatomegaly, Arthritis, B lymphocytopenia, Decreased circulating antibod...	ORPHA:397596
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Waddling gait, Inability to walk	OMIM:616269
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Lethargy, Neutropenia	ORPHA:2169
Vestibulocochlear Dysfunction, Progressive	Progressive hearing impairment, Tinnitus, Vestibular areflexia	OMIM:193005
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b...	OMIM:613983
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P...	OMIM:601399
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Recurrent Respiratory Papillomatosis	Atelectasis, Squamous cell carcinoma, Abnormal lung morphology, Recurrent pneumonia, Recurrent up...	ORPHA:60032
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal bleeding, Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neut...	ORPHA:86841
Narp Syndrome	Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis...	ORPHA:644
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Mixed astigmatism, Bone spicule pigmentation of the retina,...	OMIM:617023
Legius Syndrome	Inguinal freckling, Low-set ears, Low posterior hairline, Cafe-au-lait spot, Posteriorly rotated ...	OMIM:611431
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti...	OMIM:615233
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,...	ORPHA:542310
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Cereb...	OMIM:208920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Psoriasiform dermatitis, Decreased CD4:CD8 ratio, Decreased lymphocyte prolife...	OMIM:606367
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Emphysema, Meningitis, Recurrent bacterial infections	ORPHA:36412
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Low-set, posteriorly rotated ears, Cataract	ORPHA:1617
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Abnormal bleeding, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, ...	ORPHA:75564
Leukodystrophy, Hypomyelinating, 6	Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath...	OMIM:612438
Meconium Aspiration Syndrome	Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele...	ORPHA:70588
Cernunnos-Xlf Deficiency	Recurrent viral infections, Decreased circulating antibody level, Recurrent bacterial infections	ORPHA:169079
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ...	OMIM:606703
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic par...	OMIM:300894
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid...	ORPHA:99750
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf...	OMIM:301000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Atelectasis, Hepatomegaly, Leukocytosis, Reticulocytosis, Poikilocytosi...	OMIM:618278
Noonan Syndrome 4	Blue irides, Abnormal bleeding, Low-set ears, Thrombocytopenia, Posteriorly rotated ears, Bruisin...	OMIM:610733
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Impaired distal vibration sensation, Spasticity, Gait disturb...	OMIM:616586
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Sensorineural hearing impairment, Vestibular areflexia	OMIM:609006
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Bronchogenic Cyst	Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Abnormal pleura morp...	ORPHA:2357
Farber Disease	Anemia, Spasticity, Corneal opacity, Paraparesis, Hepatosplenomegaly, Thrombocytopenia, Myoclonus...	ORPHA:333
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Arthritis, Crescentic glomerulonephritis, Hemosiderin...	OMIM:616414
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ...	ORPHA:352649
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time, Abnormal bleeding	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	Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign	OMIM:612016
Adult Idiopathic Neutropenia	Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Recurrent f...	ORPHA:2688
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Spastic ataxia, Megaloblastic anemia, Lethargy	OMIM:277410
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Bronchiolitis obl...	OMIM:300755
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Common Variable Immunodeficiency	Emphysema, Recurrent bronchitis, Decreased circulating antibody level, Bronchiectasis, Pneumonia,...	ORPHA:1572
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy, Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lympho...	OMIM:618806
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Squamous cell carcinoma, Squamous cell carcinoma of the vulva, B lymphocyto...	ORPHA:217390
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Astigmatism, Inability to walk, Tremor, Ataxia, Large fleshy ears, Cerebellar hypoplasia	OMIM:619556
Leukodystrophy, Hypomyelinating, 2	Babinski sign, Progressive spasticity, Intention tremor, Rigidity, Head titubation, Ataxia, Dysto...	OMIM:608804
Antisynthetase Syndrome	Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Arthritis, Skin rash, Pulmonar...	ORPHA:81
Spinocerebellar Ataxia Type 36	Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at...	ORPHA:276198
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p...	OMIM:608768
Glut1 Deficiency Syndrome 2	Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ...	OMIM:617013
Uveal Melanoma	Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat...	ORPHA:39044
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Highly arched eyebrow, Multiple cafe-au-lait spots, Distichiasis, Spa...	ORPHA:1807
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Bronchitis, Emphysema	ORPHA:60
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Recurrent lower re...	OMIM:619220
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Abnormality of chromosome stability, Tremor,...	ORPHA:100
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Antalgic gait, Tetraparesis	OMIM:620546
Granulomatosis With Polyangiitis	Chronic otitis media, Inflammatory abnormality of the eye, Sensorineural hearing impairment, Skin...	ORPHA:900
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Recurrent otitis media, A...	OMIM:620233
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Increased mitochondrial number, Tremor, Hypersegmentation of neutrophil nuclei...	OMIM:615578
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Anemia, Spastic tetraparesis, Cerebral palsy, Paraparesis, Dystonia, Spastic ataxia, Generalized ...	OMIM:620358
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Iris transillumination defect, Microcornea, Generalized hypopigmentation	OMIM:617306
Lymphangioleiomyomatosis	Pneumothorax, Retinal hamartoma, Renal neoplasm, Atelectasis, Emphysema, Recurrent respiratory in...	ORPHA:538
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Dystonia 16	Bradykinesia, Generalized dystonia, Retrocollis, Limb dystonia, Involuntary movements, Gait distu...	OMIM:612067
Cerebrotendinous Xanthomatosis	Babinski sign, Abnormal cerebellar peduncle morphology, Juvenile cataract, Abnormal dentate nucle...	ORPHA:909
Systemic Sclerosis	Myocarditis, Irregular hyperpigmentation, Abnormal pulmonary interstitial morphology, Abnormality...	ORPHA:90291
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:618541
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Spinal Arteriovenous Metameric Syndrome	Cutaneous angiolipomas, Visceral angiomatosis, Paraparesis	ORPHA:53721
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi...	OMIM:266265
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hirsutism, Chorioretinal coloboma, Melanocytic n...	ORPHA:2481
Attenuated Chédiak-Higashi Syndrome	Hypertonia, Abnormality of extrapyramidal motor function, Generalized hypopigmentation, Incoordin...	ORPHA:352723
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Increased circulating antibo...	OMIM:181000
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Bronchitis, Optic neuritis, Leukopenia...	ORPHA:289390
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Primary Lateral Sclerosis	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici...	ORPHA:35689
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Tremor, Ataxia	OMIM:300983
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism	ORPHA:306669
Charcot-Marie-Tooth Disease Type 1B	Somatic sensory dysfunction, Hearing impairment, Abnormal pupil morphology	ORPHA:101082
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Sensorineural hearing impairment, Conductive hearing impairment, Recurrent bacterial infections	OMIM:610738
Immunodeficiency 52	Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod...	OMIM:617514
Large Congenital Melanocytic Nevus	Hypopigmented skin patches, Abnormality of skin pigmentation, Generalized hirsutism, Congenital g...	ORPHA:626
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig...	ORPHA:240085
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Abs...	OMIM:612852
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Distal sensory impairment, Torticollis, Sensorineural hearing impairm...	OMIM:609136
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia	ORPHA:477673
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Familial Hemophagocytic Lymphohistiocytosis	Purpura, Anemia, Hemophagocytosis, Petechiae, Sensorineural hearing impairment, Decreased circula...	ORPHA:540
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Lymphocytoma cutis, Increased circulating ...	ORPHA:449395
Angelman Syndrome	Astigmatism, Inability to walk, Broad-based gait, Keratoconus, Tremor, Hypopigmentation of the sk...	ORPHA:72
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Revesz Syndrome	Aplastic anemia, Hypertonia, Macrocytic anemia, Broad-based gait, Poor coordination, Megalocornea...	OMIM:268130
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal...	OMIM:606159
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Anonychia, Brushfield spots	ORPHA:1784
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Craniofacial...	ORPHA:420492
Proteus-Like Syndrome	Irregular hyperpigmentation, Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Spleno...	ORPHA:2969
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Elevated urinary inosi...	OMIM:613179
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Alexander Disease Type Ii	Babinski sign, Spasticity, Abnormal medulla oblongata morphology, Rigidity, Ataxia, Spastic parap...	ORPHA:363722
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sepsis, Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level,...	OMIM:243700
Polymyositis	Abnormal renal tubule morphology, Abnormal pulmonary interstitial morphology, Hepatomegaly, Arthr...	ORPHA:732
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Hypospadias, Sensorineural hearing impairment, Vesico...	ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Juvenile cataract, Resting tremor, Tremor, Sh...	OMIM:300055
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Type II diabetes mellitus, Splenomegaly, D...	OMIM:616860
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Zygomycosis	Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a...	ORPHA:73263
Peroxisome Biogenesis Disorder 5B	Oculomotor apraxia, Tremor, Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria	OMIM:614867
Granulomatous Disease, Chronic, X-Linked	Air bronchogram, Liver abscess, Atelectasis, Hepatomegaly, Rectal abscess, Discoid lupus rash, Gr...	OMIM:306400
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Post...	OMIM:607694
Coasy Protein-Associated Neurodegeneration	Spastic paraparesis, Oromandibular dystonia, Difficulty walking, Parkinsonism	ORPHA:397725
Sialidosis Type 2	Tremor, Corneal opacity, Hearing impairment, Ataxia, Splenomegaly	ORPHA:87876
Proximal Myopathy With Extrapyramidal Signs	Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun...	ORPHA:401768
16Q24.3 Microdeletion Syndrome	Astigmatism, Increased mean corpuscular volume, Optic nerve hypoplasia, Highly arched eyebrow, Th...	ORPHA:261250
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G...	OMIM:618877
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cere...	ORPHA:529665
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Nail dysplasia, Nail dystrophy, Anemia, Tremor, Bone marrow hypocellul...	OMIM:612199
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ...	OMIM:620282
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:206100
Erdheim-Chester Disease	Abnormal pulmonary interstitial morphology, Anemia, Skin rash, Dysuria, Pleural effusion, Abnorma...	ORPHA:35687
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, ...	OMIM:616505
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Congenital Rubella Syndrome	Anemia, Corneal opacity, Abnormality of retinal pigmentation, Thrombocytopenia, Splenomegaly, Cat...	ORPHA:290
Subacute Inflammatory Demyelinating Polyneuropathy	Steppage gait, Difficulty walking, Distal sensory impairment, Increased circulating IgG level, Po...	ORPHA:206594
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Spastic tetraparesis, Broad-based gait	OMIM:619470
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Conjunctivitis, Abs...	ORPHA:448237
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Recurrent bacterial infections	OMIM:202700
Lujo Hemorrhagic Fever	Myocarditis, Atelectasis, Resting tremor, Skin rash, Fulminant hepatitis, Leukocytosis, Microscop...	ORPHA:319213
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi...	ORPHA:96
Noonan Syndrome 13	Multiple lentigines, Broad eyebrow, Highly arched eyebrow, Low posterior hairline, Cafe-au-lait s...	OMIM:619087
Congenital Toxoplasmosis	Thrombocytopenia, Abnormality of retinal pigmentation, Anemia	ORPHA:858
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Pulmonary cyst	OMIM:618272
Immunodeficiency 27B	Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections	OMIM:615978
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Conductive hearing impairment, Partial agenesis of the corpus callosum, Agenesis of co...	ORPHA:85179
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:185000
Wolfram Syndrome 1	Sensorineural hearing impairment, Megaloblastic anemia, Tremor, Hearing impairment, Sideroblastic...	OMIM:222300
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Juvenile Xanthogranuloma	Uveitis, Iritis, Multiple cafe-au-lait spots, Asymmetry of iris pigmentation	ORPHA:158000
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair	OMIM:269920
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
Alopecia Universalis	Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Vitiligo, Alopecia un...	ORPHA:701
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased cir...	OMIM:601495
Neurofibromatosis, Familial Spinal	Spinal neurofibroma, Symmetric spinal nerve root neurofibromas, Paraparesis, Plexiform neurofibro...	OMIM:162210
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Somatic sensory dysfun...	ORPHA:90117
Pelizaeus-Merzbacher Disease, Classic Form	Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ...	ORPHA:280219
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Cafe-au-lait spot, Splenomegaly, Decre...	OMIM:615234
Naegeli-Franceschetti-Jadassohn Syndrome	Nail dystrophy, Decreased number of sweat glands, Dystrophic toenail, Hypopigmentation of the ski...	ORPHA:69087
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Hyperpigmentation...	OMIM:230800
Diamond-Blackfan Anemia	Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N...	ORPHA:124
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums...	OMIM:619911
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Neuronal Intranuclear Inclusion Disease	Tremor, Gait disturbance, Rigidity, Ataxia, Somatic sensory dysfunction	OMIM:603472
Neonatal Adrenoleukodystrophy	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Immunodeficiency 32B	Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Ne...	OMIM:226990
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Lichen Planus Pemphigoides	Abnormality of the nail, Hypopigmented streaks	ORPHA:254478
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Hypoplasia of the thymus, Brushfield spots, Cataract, Opacification of the...	OMIM:214110
Familial Melanoma	Freckling, Abnormal hair morphology	ORPHA:618
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia, Myoclonus, Spastic paraparesis	OMIM:231000
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Cerebellar atroph...	OMIM:300623
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Corneal crystals, Retinal pigment epithelial mottling	OMIM:219900
Distal Deletion 3P	Abnormal vestibulo-ocular reflex, Hearing impairment, Spasticity, Low-set, posteriorly rotated ears	ORPHA:1620
Charcot-Marie-Tooth Disease Type 1E	Steppage gait, Difficulty walking, Distal sensory impairment, Gait imbalance, Inability to walk, ...	ORPHA:90658
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
46,Xx Gonadal Dysgenesis	Abnormality of secondary sexual hair, Hearing impairment, Sparse pubic hair, Pulmonary fibrosis	ORPHA:243
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Blue Rubber Bleb Nevus	Prolonged bleeding time, Microcytic anemia, Intestinal bleeding	ORPHA:1059
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Increased inflam...	OMIM:209950
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria	ORPHA:98771
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Abnormal helix morphology, Multiple cafe-au-lait spots, Low-set, posteri...	ORPHA:638
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Hypermelanotic macule, Nail dystrophy, Alopecia of scalp, Alopecia, Freckling, Hypomelanotic macule	OMIM:618373
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss...	ORPHA:101
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Arthrogryposis, Distal, Type 5	Astigmatism, Keratoglobus, Keratoconus, Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Hypermanganesemia With Dystonia 1	Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi...	OMIM:613280
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor...	OMIM:261640
Familial Dysautonomia	Corneal erosion, Impaired pain sensation, Corneal opacity, Heterochromia iridis, Gait disturbance...	ORPHA:1764
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Hepatomegaly, Ocular albinism, Low-set ears, Macrotia...	OMIM:617050
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar...	OMIM:615986
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C...	OMIM:617638
Atypical Rett Syndrome	Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Spasticity, Tremor, Gai...	ORPHA:3095
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Hypospadias, Glandular hypospadias, Penile hypospadias, Micropenis	OMIM:300219
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Mydriasis, Progressive cerebellar ataxia, Truncal ataxia, Diffuse cerebellar atrophy...	ORPHA:247815
Charcot-Marie-Tooth Disease And Deafness	Steppage gait, Tremor, Distal sensory impairment, Gait disturbance	OMIM:118300
Leigh Syndrome	Optic atrophy, Hypertrichosis, Pigmentary retinopathy	OMIM:256000
Tularemia	Pneumonia, Abnormal pulmonary thoracic imaging finding, Anemia, Increased circulating antibody le...	ORPHA:3392
Autosomal Recessive Spastic Paraplegia Type 23	Multiple lentigines, Vitiligo, Silver-gray hair	ORPHA:101003
Sarcoidosis	Hypopigmentation of the skin, Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodo...	ORPHA:797
Bloom Syndrome	Cheilitis, Bronchitis, Skin rash, Neoplasm of the skin, Hypopigmentation of the skin, Malignant g...	ORPHA:125
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Abnormal upper motor neuron mo...	OMIM:601162
H Syndrome	Abnormality of the kidney, Enlarged kidney, Recurrent pharyngitis, Hyperpigmentation of the skin,...	ORPHA:168569
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Classic Galactosemia	Gait imbalance, Incoordination, Clumsiness, Abnormal erythrocyte enzyme concentration or activity...	ORPHA:79239
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Babinski sign, Impaired proprioception, Difficulty walking, Sensory ataxia, Impaired vibratory se...	OMIM:500013
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Abnormal fundus fluorescein angiography, Macular drusen, Abnormal ch...	ORPHA:284454
Multiple Sulfatase Deficiency	Optic atrophy, Corneal opacity, Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Coa...	ORPHA:585
Gillespie Syndrome	Aniridia, Cerebellar atrophy, Hypoplasia of the iris, Ataxia, Postural tremor, Cerebellar hypopla...	OMIM:206700
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227990
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in...	OMIM:618534
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit...	ORPHA:169160
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Sensorineural he...	ORPHA:163746
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cat...	OMIM:609033
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Sensorineural hearing impairment, Aspiration pneumonia	OMIM:609528
Transcobalamin Deficiency	Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody level, Decrease...	ORPHA:859
X-Linked Charcot-Marie-Tooth Disease Type 2	Babinski sign, Steppage gait, Distal sensory impairment, Gait disturbance, Spastic paraparesis, H...	ORPHA:101076
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Inability to walk...	OMIM:128100
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Abnormality of retinal pigmentation	ORPHA:3085
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio...	OMIM:607454
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormal chorioretinal morphology, Chorioretinal atrophy, Abnormality of retinal pigmentation, Re...	ORPHA:5
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ...	OMIM:137440
Lichen Planopilaris	Hypopigmented skin patches, Onycholysis, Abnormal fingernail morphology, Alopecia	ORPHA:525
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ab...	OMIM:618060
Interstitial Lung And Liver Disease	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Intraalveolar phospholipid accu...	OMIM:615486
Isolated Agammaglobulinemia	Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte...	ORPHA:229717
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased ci...	ORPHA:331206
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Hyperglycemia, Ataxia, Optic disc pallor	OMIM:618970
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Pulmonary fibrosis, Oliguria, Pulmonary infiltrates, Renal insufficiency	ORPHA:220393
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Myoclonus, Dysm...	ORPHA:254881
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Cerebellar vermis hypoplasia, Axenfeld anomaly, Hypoplastic iris strom...	OMIM:601631
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista...	OMIM:193400
Xeroderma Pigmentosum, Complementation Group F	Numerous pigmented freckles, Defective DNA repair after ultraviolet radiation damage, Astigmatism...	OMIM:278760
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Hyperpigmentation of the skin, Trichoepithelioma, Sparse hair, Pili torti, ...	OMIM:301845
Fatty Acid Hydroxylase-Associated Neurodegeneration	Progressive spastic paraparesis, Falls, Cerebellar vermis atrophy, Cerebellar atrophy, Upper moto...	ORPHA:329308
Sporadic Infantile Bilateral Striatal Necrosis	Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor...	ORPHA:225147
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail, Alopecia	ORPHA:2584
Idiopathic Hypereosinophilic Syndrome	Splenomegaly, Cholangitis, Neutrophilia, Hepatosplenomegaly, Pulmonary fibrosis, Thrombocytosis, ...	ORPHA:3260
Retinitis Pigmentosa 74	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy, Posterior polar cataract	OMIM:616562
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertonia, Anemia, Sensorineural hearing impairment, Tremor, Gait disturbance, Aplasia/Hypoplasi...	ORPHA:1192
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Lethargy, Hemolytic anemia	OMIM:611590
Autosomal Recessive Spastic Paraplegia Type 11	Inability to walk, Abnormality of extrapyramidal motor function, Progressive spasticity, Gait dis...	ORPHA:2822
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar vermis atrophy, Sensorineural hearing impairment, Athetosis, Cerebellar atrophy, Low-s...	OMIM:614866
Isolated Congenital Hypoglossia/Aglossia	Hamartoma, Aspiration pneumonia	ORPHA:141152
Oculodentodigital Dysplasia	Microcornea, Spasticity, Abnormal pinna morphology, Paraparesis, Conductive hearing impairment, A...	OMIM:164200
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Chronic oral candidiasis, Hyperpigmentation of the skin, Recurre...	ORPHA:221139
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Ataxia, Athetosis	OMIM:617106
Menkes Disease	Alopecia, Hypopigmentation of the skin, Sparse hair, Brittle hair	OMIM:309400
Interstitial Lung Disease 1	Ground-glass opacification, Intralobular septal thickening, Nonspecific interstitial pneumonia, E...	OMIM:619611
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro...	OMIM:300578
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, Arthritis, B lymphocytopenia, T lymphocytopenia, Purulent rhinitis, Oti...	OMIM:601457
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Immunodeficiency 62	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c...	OMIM:618459
Relapsing Polychondritis	Inflammatory abnormality of the eye, Sensorineural hearing impairment, Vertigo, Pericarditis, Myo...	ORPHA:728
Congenital Muscular Dystrophy With Cerebellar Involvement	Cerebellar cyst, Abnormality iris morphology, Megalocornea, Clonus, Dilated fourth ventricle, Hyp...	ORPHA:370959
Sturge-Weber Syndrome	Optic atrophy, Retinal detachment, Corneal dystrophy, Heterochromia iridis, Conjunctival telangie...	ORPHA:3205
Pelizaeus-Merzbacher Disease	Generalized dystonia, Writer's cramp, Inability to walk, Broad-based gait, Cerebellar vermis atro...	OMIM:312080
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel...	ORPHA:911
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Low-set ears, Decreased circulating IgG ...	OMIM:614069
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Thick hair, Long eyelashes, Nephrotic syndrome, Bone marrow hypocellular...	ORPHA:505248
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin	ORPHA:75563
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of specific...	OMIM:620430
Pulmonary Alveolar Microlithiasis	Pneumothorax, Ground-glass opacification, Pleural thickening, Hematuria, Hepatomegaly, Bronchitis...	ORPHA:60025
Gaucher Disease	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulating antibody ...	ORPHA:355
Agammaglobulinemia 9, Autosomal Recessive	Sensorineural hearing impairment, Agammaglobulinemia, Recurrent bacterial infections	OMIM:619693
Niemann-Pick Disease, Type C2	Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Dystonia, Splenomegaly, Pulmonary f...	OMIM:607625
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy	ORPHA:100996
Acute Transverse Myelitis	Babinski sign, Impaired proprioception, Paraplegia, Abnormality of extrapyramidal motor function,...	ORPHA:139417
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227982
Typhoid	Abnormal pulmonary interstitial morphology, Hepatomegaly, Skin rash, Tremor, Splenomegaly, Infect...	ORPHA:99745
Pneumocystosis	Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ...	ORPHA:723
Reticular Dysgenesis	Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Hearing impairment...	ORPHA:33355
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation	ORPHA:2518
Acral Peeling Skin Syndrome	Hyperpigmentation of the skin	ORPHA:263534
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Sepsis, Recurrent otitis media, Pulmonary tuberculosis, Recurrent lower respiratory tract infecti...	ORPHA:183675
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Impaired distal vibration sensation, Gait ataxia, Action tremor, Head titubation, A...	ORPHA:99027
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Lelis Syndrome	Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Perioral hyper...	ORPHA:140936
Superficial Siderosis	Vertigo, Cerebellar atrophy, Ataxia, Persistent bleeding after trauma, Babinski sign, Abnormal bl...	ORPHA:247245
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Retinitis Pigmentosa	Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon...	ORPHA:791
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal cyst, Hepatosplenome...	OMIM:619902
Sialidosis Type 1	Sensorineural hearing impairment, Tremor, Corneal opacity, Gait disturbance, Ataxia, Splenomegaly...	ORPHA:812
Zellweger Syndrome	Abnormal chorioretinal morphology, Sensorineural hearing impairment, Abnormal pinna morphology, C...	ORPHA:912
Poliomyelitis	Hyperkinetic movements, Inability to walk, Fasciculations, Paraparesis, Paralysis, Paresthesia	ORPHA:2912
Cronkhite-Canada Syndrome	Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, A...	ORPHA:2930
Factor V Deficiency	Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P...	OMIM:227400
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Neoplasm of the skin, Nephrocalcinosis, Multiple renal cysts, Fi...	ORPHA:534
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park...	OMIM:619725
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Dyston...	ORPHA:64753
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Lowry-Wood Syndrome	Abnormality of nail color, Astigmatism, Abnormality of retinal pigmentation	ORPHA:1824
Knobloch Syndrome 1	Iris transillumination defect, Alopecia of scalp, Retinal detachment, Band keratopathy, Chorioret...	OMIM:267750
Gaucher Disease Type 1	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulating antibody ...	ORPHA:77259
Immunodeficiency 12	Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Complete or near-com...	OMIM:615468
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Atrichia, Congenital abnormal hair patte...	ORPHA:1867
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema	OMIM:219100
Spinocerebellar Ataxia Type 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Cerebellar v...	ORPHA:458803
Chronic Actinic Dermatitis	Hypopigmented skin patches, Progressive hyperpigmentation	ORPHA:330064
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela...	OMIM:619774
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxi...	OMIM:614381
Peroxisome Biogenesis Disorder 1A (Zellweger)	Sensorineural hearing impairment, Abnormal helix morphology, Low-set ears, Frequent falls, Hearin...	OMIM:214100
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia	OMIM:616353
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Onychomycosis, Decreased specific antibody response to vaccin...	ORPHA:331235
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Persistent CMV viremia, Persistent EBV viremia, Dec...	OMIM:616005
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Neurodegeneration With Brain Iron Accumulation 4	Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrapyramidal motor ...	OMIM:614298
Bilateral Perisylvian Polymicrogyria	Limb hypertonia, Oromotor apraxia, Cerebellar vermis hypoplasia, Lower limb spasticity, Spasticit...	ORPHA:98889
Migraine, Familial Hemiplegic, 2	Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme...	OMIM:602481
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Sensorineu...	ORPHA:447753
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Storage Pool Platelet Disease	Acute leukemia, Prolonged bleeding time, Abnormal bleeding, Decreased mean platelet volume	OMIM:185050
Pyruvate Dehydrogenase Deficiency	Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Choreoathetosis, Abnormal...	ORPHA:765
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Eosinophil...	ORPHA:486
Sneddon Syndrome	Decreased circulating total IgM, Tremor, Cerebral hemorrhage, Impaired distal tactile sensation, ...	OMIM:182410
Q Fever	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulat...	ORPHA:781
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Autoimmune Polyendocrinopathy Type 2	Hypopigmented skin patches, Alopecia	ORPHA:3143
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Frequent falls	OMIM:160565
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru...	ORPHA:335
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R...	ORPHA:3337
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Al Amyloidosis	Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Renal interstitial amyloid...	ORPHA:85443
Klippel-Trénaunay Syndrome	Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage	ORPHA:90308
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Omenn Syndrome	Hepatomegaly, Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Ly...	ORPHA:39041
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Sensorineural hearing impairm...	ORPHA:443811
Ataxia-Telangiectasia	T lymphocytopenia, Ataxia, Lymphopenia, Myoclonus, Decreased circulating IgG2 level, Tremor, Cafe...	OMIM:208900
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent otitis media, Pyoderma, Panhypogammaglobulinemia, Recurrent urinary tract infections, M...	OMIM:307200
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Bronchiolitis Obliterans	Ground-glass opacification, Pneumonia, Respiratory tract infection, Bronchiectasis, Bronchiolitis...	ORPHA:1303
Mulibrey Nanism	Corneal dystrophy, Astigmatism, Pigmentary retinopathy, Iris coloboma	OMIM:253250
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Axial dystonia...	OMIM:612953
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Hyposegmentation of neutrophil nuclei	ORPHA:250999
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation	ORPHA:209335
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Tremor, Iris atrophy, Olivopontocerebellar atrophy, Rigidity, Ataxia...	OMIM:146500
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair	ORPHA:2221
Mohr-Tranebjaerg Syndrome	Babinski sign, Prelingual sensorineural hearing impairment, Postlingual sensorineural hearing imp...	ORPHA:52368
Aceruloplasminemia	Limb ataxia, Akinesia, Hypochromic microcytic anemia, Torticollis, Abnormal dentate nucleus morph...	ORPHA:48818
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Hyperhidrosis, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypertonia, Limb hypertonia, Athetosis, Cerebellar atrophy, Tremor, Dystonia, Ataxia, Thrombocyto...	OMIM:617710
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Multiple System Atrophy	Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait...	ORPHA:102
Pelizaeus-Merzbacher Disease In Female Carriers	Babinski sign, Difficulty walking, Inability to walk, Lower limb spasticity, Gait disturbance, Ha...	ORPHA:280229
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Increased circulating IgA level, Recurrent viral infections, Abn...	OMIM:618048
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Abnormal pinna morphology, Hypoplastic nipples, Low-set ears, Renal hy...	OMIM:269860
Nocardiosis	Pneumothorax, Sepsis, Emphysema, Pleuritis, Pleural effusion, Infectious encephalitis, Unusual CN...	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	Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor...	OMIM:606002
Rajab Interstitial Lung Disease With Brain Calcifications 2	Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Microcytic anemia	OMIM:619013
Nail-Patella Syndrome	Tip-toe gait, Impaired temperature sensation, Impaired pain sensation, Antecubital pterygium, Pri...	ORPHA:2614
Saccharopinuria	Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia	ORPHA:3124
Muenke Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment, Hypermelanotic macule, Hypopigmenta...	ORPHA:53271
Prolidase Deficiency	Hirsutism, White forelock, Abnormal fingernail morphology, Abnormality of retinal pigmentation, L...	ORPHA:742
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hearing impairment, Abnormality of skin pigmentation	ORPHA:457260
Dermatomyositis	Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Arthritis, Skin rash, Abnormal...	ORPHA:221
Joubert Syndrome 3	Highly arched eyebrow, Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Atelectasis, Splenic cyst, Highly arched eyebrow, Gliosis, Pulmonary artery atresia...	OMIM:620371
Myopathy With Extrapyramidal Signs	Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Tremor, Leukocytosis, F...	OMIM:615673
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG...	OMIM:102700
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:619092
Jaberi-Elahi Syndrome	Protruding ear, Inability to walk, Broad-based gait, Appendicular spasticity, Dandy-Walker malfor...	OMIM:617988
Pelger-Huet Anomaly	Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Lower limb hypert...	OMIM:169400
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Retinal pigment epithelial mottling, Sparse hair	OMIM:614105
Neuroferritinopathy	Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Resting tremor, Ab...	ORPHA:157846
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal retinal ...	ORPHA:2715
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
8Q21.11 Microdeletion Syndrome	Corneal opacity, Low-set ears, Hearing impairment, Iris hypopigmentation, Sclerocornea, Cataract	ORPHA:284160
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Charcot-Marie-Tooth Disease Type 4C	Difficulty walking, Inability to walk, Impaired pain sensation, Positive Romberg sign, Tongue fas...	ORPHA:99949
Complement Component 5 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:609536
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid...	ORPHA:240071
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Cataract, Abnor...	ORPHA:1493
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ...	OMIM:619574
Phakomatosis Pigmentovascularis	Hypopigmented skin patches, Generalized hyperpigmentation	ORPHA:2875
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia...	OMIM:618282
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Keratoconjunctivitis, Vitiligo, Iridocyclitis, Cataract, Alopecia universalis, Pe...	OMIM:240300
Diaphanospondylodysostosis	Enlarged kidney, Hypoplastic fingernail, Nephroblastomatosis, Low-set ears, Nephrogenic rest, Pul...	OMIM:608022
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Desquamative interstitial pneumonitis, Recurrent upper respiratory t...	OMIM:263000
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo...	OMIM:619652
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre...	OMIM:619752
Severe Neurodegenerative Syndrome With Lipodystrophy	Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia, Ataxia, Myoclonus, Abnor...	ORPHA:363400
Non-Specific Early-Onset Epileptic Encephalopathy	Difficulty walking, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Rigidity, Abnorma...	ORPHA:442835
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Renal insufficiency, P...	ORPHA:330001
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Congenital Tracheomalacia	Pneumothorax, Partial anomalous pulmonary venous return, Emphysema, Bronchiectasis, Pulmonary hyp...	ORPHA:95430
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract, Spastic paraparesis	OMIM:619338
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Parkinsonism	ORPHA:3077
Dyskeratosis Congenita, Autosomal Recessive 2	Recurrent opportunistic infections, Bone marrow hypocellularity, Nail dystrophy, Reticulated skin...	OMIM:613987
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s...	ORPHA:325
Cutis Laxa, Autosomal Recessive, Type Ic	Multiple bladder diverticula, Emphysema, Atelectasis, Accessory spleen, Hypoplasia of the thymus,...	OMIM:613177
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Positive Romberg sign, Intention tre...	OMIM:105210
Isolated Succinate-Coq Reductase Deficiency	Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Lower limb hypertonia, Ataxia, L...	ORPHA:3208
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Rec...	ORPHA:169090
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Vici Syndrome	Neutropenia, Hypopigmentation of hair, Cerebellar vermis hypoplasia, Sensorineural hearing impair...	OMIM:242840
Reactive Arthritis	Dystrophic fingernails, Recurrent aphthous stomatitis, Abnormality of the nail, Arthritis, Recurr...	ORPHA:29207
Immunodeficiency 40	Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Focal active colitis, Reduced ant...	OMIM:616433
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Emphysema, Recurrent urinary tract infections, Recurrent pneumonia, Peripheral pulm...	ORPHA:90349
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Hyperpigmentation of the skin, Lack of T cell funct...	ORPHA:35078
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Retinoblastoma	Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero...	ORPHA:790
Micro Syndrome	Optic atrophy, Microcornea, Retinal coloboma, Abnormality of retinal pigmentation, Generalized hi...	ORPHA:2510
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Craniofacial dystonia, Aspiration pneumonia, Sparse hair, Bronchiectasis, Cerebellar...	OMIM:618253
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Absent outer dynein arms, Pneumonia, Recurrent otitis media, Chronic rhinit...	OMIM:612444
Fanconi Anemia, Complementation Group F	Anemia, Hyperpigmentation of the skin, Pelvic kidney, Microtia, Vesicoureteral reflux, Microphall...	OMIM:603467
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he...	OMIM:613679
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Spastic paraparesis, Spasticity, Astigmatism	OMIM:270200
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia...	OMIM:615530
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Barth Syndrome	Abnormality of neutrophils, Abnormal mitochondrial morphology	ORPHA:111
Refsum Disease	Cataract, Abnormality of retinal pigmentation, Retinopathy, Nail dysplasia	ORPHA:773
Combined Oxidative Phosphorylation Deficiency 32	Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Choreoathetosis	OMIM:617664
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares...	ORPHA:282166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Pleural effusion, Abnormal spleen morphology, Abnormal lung morphology, ...	ORPHA:464329
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Acute pancreatitis, Pneumonia, Diffuse alveolar hemor...	ORPHA:178320
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Posterior uveitis, Anterior chamber cells, Poliosis, Depig...	ORPHA:79098
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Anemia of inadequate production, Leukocytosis, Persistence of hemog...	ORPHA:231222
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Erythroid hyperplasia,...	OMIM:600462
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ...	OMIM:618056
Yellow Nail Syndrome	Renal neoplasm, Yellow nails, Toenail dysplasia, Pleuritis, Neoplasm of the lung, Sinusitis, Onyc...	ORPHA:662
Immune-Mediated Necrotizing Myopathy	Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Skin rash, Neoplasm	ORPHA:206569
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Hyperpigmentation of the skin, Extramedullary hematopoiesis, Decre...	ORPHA:231226
Scheie Syndrome	Sensorineural hearing impairment, Corneal opacity, Cerebral palsy, Splenomegaly, Spastic paraparesis	ORPHA:93474
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis	OMIM:233910
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary opacity,...	ORPHA:217563
Hemophilia B	Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr...	ORPHA:98879
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Microcoria, Hypoplasia ...	OMIM:609049
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Recurrent...	OMIM:616576
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Developmental glaucoma, Difficulty walking, Inability to walk, Distal sensory impai...	ORPHA:99956
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Koolen-De Vries Syndrome	Cataract, Iris hypopigmentation, Abnormality of hair texture, Fair hair	OMIM:610443
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Aniridia, Optic disc hypoplasia, Microco...	ORPHA:233
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Reticulocytopenia, Cafe-au-lait spot, Dysplastic erythropoesis, Hepa...	ORPHA:300298
Brittle Cornea Syndrome 1	Red hair, Keratoglobus, Keratoconus, Decreased corneal thickness, Abnormal cornea morphology	OMIM:229200
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Brucellosis	Bronchitis, Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anterior uveit...	ORPHA:1304
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Sneddon Syndrome	Chorea, Hemiparesis, Tremor	ORPHA:820
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu...	OMIM:610984
Noonan Syndrome	Juvenile myelomonocytic leukemia, Abnormal bleeding, Thickened helices, Low-set, posteriorly rota...	ORPHA:648
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia	ORPHA:83629
22Q11.2 Deletion Syndrome	Chronic otitis media, Seborrheic dermatitis, Small earlobe, Splenomegaly, Multiple renal cysts, H...	ORPHA:567
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233710
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia	ORPHA:36387
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Microcornea, Heterochromia iridis, Low posterior hairline, Retinoschisis, ...	ORPHA:2995
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Atelectasis, Recurrent lower respiratory tract infections, Myositis, Ast...	ORPHA:258
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Hepatomegaly, Panhypogammaglobulinemia, Abnormally low T cell receptor excisio...	OMIM:602450
Beta-Thalassemia Major	Anisopoikilocytosis, Hypochromic microcytic anemia, Hyperpigmentation of the skin, Extramedullary...	ORPHA:231214
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Sensorineural hearing impairment...	ORPHA:2479
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Somatic sensory dysfunction, Paraparesis	ORPHA:449427
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Asplenia, Pulmonary hypoplasia, Cystic ren...	OMIM:615415
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Hearing abnormality, Chronic myelogenous leukemia...	ORPHA:636
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema	OMIM:123700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneu...	OMIM:242860
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Dyskeratosis Congenita, Digenic	Nail dystrophy, Recurrent infections, Sparse eyelashes, Decreased circulating IgG level, Abnormal...	OMIM:620040
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Corneal opacity, Cone/cone-rod dystrophy, Abnormality of retin...	ORPHA:85167
Werner Syndrome	Premature graying of hair, Sparse scalp hair, White forelock, Abnormality of retinal pigmentation...	ORPHA:902
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema	OMIM:614816
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy...	OMIM:617675
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Gait disturbance, Abnor...	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, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:88628
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Multiple cafe-au-lait spots	ORPHA:302
Waisman Syndrome	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh...	OMIM:311510
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Oculomotor apraxia, Cerebellar vermis hypoplasia, Tremor, Gait...	ORPHA:220497
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ...	ORPHA:50815
Neutral Lipid Storage Disease With Ichthyosis	Difficulty walking, Small earlobe, Sensorineural hearing impairment, Subcapsular cataract, Abnorm...	ORPHA:98907
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233690
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Ataxia, Myoclonus	OMIM:607876
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low...	OMIM:600802
Watson Syndrome	Inguinal freckling, Low-set ears, Multiple cafe-au-lait spots, Posteriorly rotated ears, Axillary...	OMIM:193520
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:101800
Paget Disease Of Bone 2, Early-Onset	Tetraparesis, Paraparesis	OMIM:602080
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ...	OMIM:615994
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur...	OMIM:608836
Adult Syndrome	Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ...	ORPHA:978
Overlap Myositis	Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Arthritis, Rheumatoid arth...	ORPHA:206572
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the...	OMIM:612582
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Emphysema	OMIM:616835
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
Cohen Syndrome	Optic atrophy, Thick hair, Abnormal eyelash morphology, Long eyelashes, Abnormality of skin pigme...	ORPHA:193
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Abnormal lateral ventricle morphology, Hematuria, Pancytopenia, Arth...	ORPHA:1855
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Renal neoplasm, Atelectasis, Torticollis, Repeated pneumothoraces, Low-...	ORPHA:536467
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Hyperkinetic movements, Inability to walk, Truncal ataxia, Chorea, Athetosis,...	OMIM:615356
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Progressive reticulate hyperpigmentation, Mixed hypo- ...	ORPHA:79145
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Prolonged prothrombin time, Hypertonia, Difficulty walking, Truncal ataxia, Dysdiad...	ORPHA:309854
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent lower respiratory tract infections, Crohn's ...	OMIM:616100
Leber Congenital Amaurosis 15	Posterior subcapsular cataract, Optic disc pallor, Attenuation of retinal blood vessels, Peripapi...	OMIM:613843
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased circulating inhibin B concentration, Impaired temperature sensation, Hypopigmentation o...	ORPHA:98754
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha...	ORPHA:3322
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Tremor, Cerebellar atroph...	OMIM:620327
Joubert Syndrome	Oculomotor apraxia, Cerebellar vermis hypoplasia, Tremor, Low-set ears, Gait disturbance, Ataxia,...	ORPHA:475
Leukoencephalopathy With Ataxia	Limb ataxia, Choroidal neovascularization, Chorioretinal atrophy, Gait ataxia, Action tremor	OMIM:615651
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Hypertonia, Anemia, Hemophagocytosis, Tetraplegia, Ataxia, Splenomega...	OMIM:267700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoi...	ORPHA:37042
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Rigidity, Dystonia	ORPHA:70594
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulating antibody ...	ORPHA:77261
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ...	OMIM:618108
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair...	ORPHA:1806
Abetalipoproteinemia	Prolonged prothrombin time, Babinski sign, Steppage gait, Impaired proprioception, Anemia, Abnorm...	ORPHA:14
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Epistaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased circulating inhibin B concentration, Impaired temperature sensation, Hypopigmentation o...	ORPHA:98793
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Ataxia, Hematochezia, Cataract, Pigmentary retinopathy	ORPHA:79095
Cinca Syndrome	Purpura, Anemia, Sensorineural hearing impairment, Leukocytosis, Hearing impairment, Abnormal gra...	ORPHA:1451
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased circulating inhibin B concentration, Impaired temperature sensation, Hypopigmentation o...	ORPHA:177904
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s...	ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased circulating inhibin B concentration, Impaired temperature sensation, Hypopigmentation o...	ORPHA:177901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Developmental cataract, Posterior synechiae of the anterior cha...	OMIM:613154
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Icf Syndrome	Anemia, Abnormality of chromosome stability, Decreased circulating antibody level, Low-set ears, ...	ORPHA:2268
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia	OMIM:619708
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Small nail, Microcornea, Stellate iris, Distichiasis, Long e...	OMIM:619539
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Immunodeficiency 43	Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Decreased circulating IgG level,...	OMIM:241600
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Dandy-Walker malformation, Asplenia, ...	OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
Cohen Syndrome	Optic atrophy, Bone spicule pigmentation of the retina, Neutropenia, Bull's eye maculopathy, Thic...	OMIM:216550
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Recurrent otitis media, Hepatomegaly, Cardiomegaly, Brittle hair, Recurrent bron...	OMIM:252500
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Avian Influenza	Pneumothorax, Acute kidney injury, Ground-glass opacification, Myelitis, Pleural effusion, Lympho...	ORPHA:454836
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Terminal Osseous Dysplasia	Abnormality of skin pigmentation, Low-set ears	OMIM:300244
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Ciliary Dyskinesia, Primary, 20	Absent outer dynein arms, Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurre...	OMIM:615067
Combined Oxidative Phosphorylation Defect Type 7	Difficulty walking, Distal sensory impairment, Inability to walk, Ataxia, Abnormal pyramidal sign...	ORPHA:254930
Juvenile Dermatomyositis	Myositis, Arthritis, Skin rash, Pericarditis, Pulmonary fibrosis, Alopecia	ORPHA:93672
Alpha-Mannosidosis, Adult Form	Mixed hearing impairment, Pancytopenia, Cerebellar atrophy, Hepatosplenomegaly, Pneumonia, Oligos...	ORPHA:309288
Bloom Syndrome	Protruding ear, Squamous cell carcinoma, Azoospermia, Malar rash, Abnormality of chromosome stabi...	OMIM:210900
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous...	OMIM:618131
Joubert Syndrome With Hepatic Defect	Oculomotor apraxia, Cerebellar vermis hypoplasia, Tremor, Low-set ears, Gait disturbance, Ataxia,...	ORPHA:1454
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Pancytopenia, Right hemiplegia, Sensorineural hearing impairment, Tremor, Cerebellar atro...	OMIM:607426
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Leukonychia, Panniculitis, Retinal dysplasia, Retinal dystrophy, Retinal detachmen...	ORPHA:2526
Digeorge Syndrome	Recurrent otitis media, Atelectasis, Anemia, Unilateral renal agenesis, Seborrheic dermatitis, Re...	OMIM:188400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Facial hirsutism, Generalized hypopigmentation, Hypoplastic nipples, Sparse scalp...	OMIM:604292
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Anemia, Pancytopenia, Azoospermia, Bacterial endocard...	ORPHA:2072
Beckwith-Wiedemann Syndrome	Rhabdomyosarcoma, Ureteral duplication, Enlarged kidney, Abnormal earlobe morphology, Large intes...	ORPHA:116
Phacoanaphylactic Uveitis	Cystoid macular edema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseudophakia, ...	ORPHA:209959
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Coarse hair, Nail dystrophy, Hematuria, Chronic monilial nail infection, Chronic ...	OMIM:158310
Nail-Patella Syndrome	Microphakia, Ridged nail, Keratoconus, Microcornea, Concave nail, Antecubital pterygium, Anonychi...	OMIM:161200
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobu...	OMIM:265450
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret...	OMIM:612109
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Chromomycosis	Hypopigmented skin patches, Recurrent bacterial infections	ORPHA:182
Cockayne Syndrome Type 1	Hypermelanotic macule, Difficulty walking, Anemia, Lower limb spasticity, Tremor, Gait disturbanc...	ORPHA:90321
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Oculomotor apraxia, Cerebellar vermis hypoplasia, Tremor, Gait...	ORPHA:220493
Proteus Syndrome	Irregular hyperpigmentation, Bronchogenic cyst, Enlarged kidney, Lipoma, Splenomegaly, Neoplasm, ...	ORPHA:744
Dentinogenesis Imperfecta	Hearing impairment, Bruising susceptibility, Prolonged bleeding time	ORPHA:49042
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Freckling	OMIM:278720
Alg9-Cdg	Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Low-set, posteriorly rotated ears, Tortico...	ORPHA:79328
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Abnormal pinna morphology, Low...	OMIM:200995
Leukocyte Adhesion Deficiency, Type I	Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Rec...	OMIM:116920
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Dystonia, Loss of ambul...	OMIM:168601
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tip-toe gait, Somatic sensory dysfunction, Babinski sign, Difficulty walking, Hypertonia, Inabili...	ORPHA:466768
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, Hirsutism, Low posterior hairline, Synophrys, Abnormal hair whorl, Spotty hypopig...	OMIM:300860
Perry Syndrome	Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait	OMIM:168605
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Retinal detachment, Corneal dystrophy, Decreased corneal thickness...	ORPHA:90354
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Pulmonary hypoplasia, Urethral atresia	OMIM:314390
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Recurrent bacterial infections	OMIM:603585
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Phace Syndrome	Dandy-Walker malformation, Heterochromia iridis, Hemiplegia/hemiparesis, Sclerocornea, Lens colob...	ORPHA:42775
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolytic anemia	ORPHA:713
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hypertrichosis	OMIM:309900
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab...	ORPHA:35858
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormality of skin pigmentation, Abnormal hair morphology	ORPHA:1979
Autosomal Recessive Spastic Paraplegia Type 20	Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Abnormal cerebellum morphology, Spee...	ORPHA:101000
Dyskeratosis Congenita	Premature graying of hair, Hypermelanotic macule, Neoplasm of the pancreas, Nail dystrophy, Aplas...	ORPHA:1775
Hereditary Methemoglobinemia	Abnormality of the nail, Athetosis, Methemoglobinemia	ORPHA:621
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Coats Disease	Retinal telangiectasia, Exudative retinal detachment, Leukocoria	OMIM:300216
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Generalized hypopigmentation, Hypoplastic nipples, Sparse scalp hair, Sparse eyel...	OMIM:129900
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Renal tubular acidosis, Organic aciduria, Cerebellar atrophy, Aspiration pneumonia,...	ORPHA:431361
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormality of the pulmonary artery, Emphysema	ORPHA:363618
Autosomal Dominant Optic Atrophy And Cataract	Somatic sensory dysfunction, Posterior subcapsular cataract, Postural tremor, Posterior cortical ...	ORPHA:67036
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism	OMIM:260540
Xeroderma Pigmentosum, Complementation Group B	Cataract, Optic atrophy, Freckling, Pigmentary retinopathy	OMIM:610651
Juvenile Glaucoma	Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal arterial occlusion, Abn...	ORPHA:98977
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sensorineural hearing impairment, Low-set ears, Synophrys, Curly hair, Hyposegmentation of neutro...	OMIM:620075
Autoimmune Polyendocrinopathy Type 1	Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia	ORPHA:3453
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hearing abnormality, Microtia, Ocular albinism, Myoclonus, Cupped ear	ORPHA:1352
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Cholangitis, Oliguria, Polycystic kidney dysplasia, Recurre...	ORPHA:731
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Incoordination, Low-set ears, Hearing impairment, Macrotia, A...	ORPHA:369891
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ...	OMIM:616329
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait	OMIM:168600
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Athetosis, Cerebellar atrophy,...	ORPHA:572798
O'Sullivan-Mcleod Syndrome	Fasciculations, Eosinophilia, Tremor, Increased circulating antibody level	ORPHA:99965
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Atelectasis, Hearing impairment, Respiratory tract infection, Left ventricular hype...	ORPHA:365
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Babinski sign, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Spasticity, Corne...	OMIM:175780
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Onychauxis, Hypogly...	OMIM:262190
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Enlarged kidney, Pancreatitis, Anemia, Hepatomegaly, Periodontitis, Tubul...	ORPHA:79259
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothorax, Recu...	OMIM:130050
Ellis Van Creveld Syndrome	Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Pulmonary carcinoid tumor	ORPHA:97287
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Low-set ears, Hypertrichosis	OMIM:612379
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Decreased c...	OMIM:212065
Keutel Syndrome	Recurrent otitis media, Emphysema, Recurrent bronchitis, Pulmonary artery hypoplasia, Peripheral ...	OMIM:245150
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Oculodentodigital Dysplasia	Abnormality of the ear, Abnormality iris morphology, Microcornea, Spasticity, Abnormal pinna morp...	ORPHA:2710
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Tyrosinemia Type 2	Tremor, Corneal opacity, Ataxia	ORPHA:28378
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Low-set, posteriorly rotated ears, Impaired T cell function, Abnormality ...	ORPHA:30
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Septic arthritis, Pneum...	ORPHA:36234
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypopigmentation of the skin, Brittle hair	OMIM:236200
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c	OMIM:618858
Miller Fisher Syndrome	Mydriasis, Anisocoria, Ataxia, Tetraparesis, Paresthesia	ORPHA:98919
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol...	OMIM:614878
Tay-Sachs Disease	Inability to walk, Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Tremor, Ce...	ORPHA:845
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Cerebellar atrophy, Gait ataxia, Action tremor, Intention tremor, Unsteady g...	OMIM:254900
Ramon Syndrome	Hypertrichosis, Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Akinesia, Hyperpigmentation of the skin, Abnormality of extrapyramid...	OMIM:234200
Combined Oxidative Phosphorylation Deficiency 51	Hearing impairment, Aspiration pneumonia	OMIM:619057
Gastrointestinal Stromal Tumor	Hyperpigmentation of the skin	OMIM:606764
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Abnormal pulmonary interstitial morphology, Emphysema	OMIM:613658
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Eales Disease	Rubeosis iridis, Epistaxis, Anterior uveitis, Vitreous hemorrhage, Spastic paraparesis	ORPHA:40923
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Recurrent otitis media, Juvenile rheumatoid arthritis, Tubulointerstitial ...	OMIM:607944
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Cerebellar cyst, Polycystic kidney dysplasia, Agenesis of corpus callosum, Renal...	OMIM:613091
Mannosidosis, Alpha B, Lysosomal	Sensorineural hearing impairment, Decreased circulating antibody level, Macrotia, Thick eyebrow, ...	OMIM:248500
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Purpura, Vertigo, Gingival bleeding, Retinal hemo...	ORPHA:33226
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Sparse scalp hair, Ectopia lentis, Abnormality of retinal pigm...	ORPHA:394
Beta-Thalassemia	Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia	ORPHA:848
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Babinski sign, Resting tremor, Sensorineural hearing impairment, Spasticity, Cerebellar atrophy, ...	ORPHA:314404
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Relapsing Fever	Prolonged prothrombin time, Abnormal bleeding, Anemia, Leukocytosis, Neutrophilia, Thrombocytopen...	ORPHA:91547
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Chand Syndrome	Hydroureter, Atelectasis, Nail dysplasia, Curly hair	ORPHA:1401
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Nail dystrophy, Decreased glomerular filtration rate,...	OMIM:614748
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria	OMIM:618527
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Tremor, Nystagmus, And Duodenal Ulcer	Abnormal cerebellum morphology, Kinetic tremor, Tremor	OMIM:190310
Meier-Gorlin Syndrome 1	Emphysema	OMIM:224690
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Difficulty walking, Progressive cerebellar ataxia, Lipoma, Dysdiadochokinesis, Tremor, Cerebellar...	ORPHA:502423
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Hyperkinetic movements, Ne...	ORPHA:525731
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Achalasia-Addisonianism-Alacrima Syndrome	Babinski sign, Hyperpigmentation of the skin, Anisocoria, Decreased circulating cortisol level, A...	OMIM:231550
Omenn Syndrome	Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections, Alopecia	OMIM:603554
Nipah Virus Disease	Tremor, Recurrent pharyngitis, Myoclonus	ORPHA:99825
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Renal insufficiency, Lymphocytosis, Thyroiditis, Skin rash, Eosinophilia, Nephrotic ...	ORPHA:139402
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Gm1 Gangliosidosis	Abnormality of extrapyramidal motor function, Decerebrate rigidity, Spasticity, Tremor, Corneal o...	ORPHA:354
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Onychogryposis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Gene...	ORPHA:79396
Axenfeld-Rieger Syndrome, Type 3	Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Hypoplasia of the iris, Posterior...	OMIM:602482
Foix-Alajouanine Syndrome	Difficulty walking, Gait imbalance, Dysesthesia, Frequent falls, Unsteady gait, Progressive spast...	ORPHA:79093
Coccidioidomycosis	Skin rash, Granuloma, Pericarditis, Erythema nodosum, Morbilliform rash, Abnormality of the kidne...	ORPHA:228123
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c	OMIM:610582
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia	OMIM:620326
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Hyperpigmentation of the skin	ORPHA:2176
Sézary Syndrome	Irregular hyperpigmentation, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Tremo...	ORPHA:3162
Cystic Echinococcosis	Abnormal pulmonary thoracic imaging finding, Hepatomegaly, Increased circulating antibody level, ...	ORPHA:400
Porphyria Variegata	Hypopigmentation of the skin, Hypertrichosis, Hyperpigmentation of the skin	ORPHA:79473
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Squalene Synthase Deficiency	Optic nerve hypoplasia, Abnormality of hair pigmentation	OMIM:618156
Neonatal Marfan Syndrome	Emphysema	ORPHA:284979
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormality of skin pigmentation, Low-set ears	ORPHA:2180
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Nail dystrophy, Abnormality of the nail, Abnormal fingernail morpholo...	ORPHA:678
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Kawasaki Disease	Myocarditis, Abnormality of nail color, Cheilitis, Abnormal pulmonary interstitial morphology, Re...	ORPHA:2331
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury, Neoplasm	ORPHA:140896
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyelashes, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair	ORPHA:75496
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c	OMIM:606176
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Minimal change glomerulonephri...	OMIM:620565
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Recurrent bacterial infections	OMIM:612840
Surfactant Metabolism Dysfunction, Pulmonary, 1	Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickeni...	OMIM:265120
Down Syndrome	Microtia, Myeloproliferative disorder, Conductive hearing impairment, Brushfield spots, Acute meg...	OMIM:190685
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane...	OMIM:221900
Mody	Neonatal hypoglycemia, Hypoinsulinemia, Retinopathy, Glycosuria, Hyperglycemia, Transient neonata...	ORPHA:552
Osteogenesis Imperfecta, Type Xvi	Hearing impairment, Bruising susceptibility, Conductive hearing impairment, Prolonged bleeding time	OMIM:616229
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Skin rash, Increased circulating IgA level, Hirsutism, Lymphoma,...	ORPHA:2298
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Pleuritis, Arthritis, Skin rash, Leukocytosis, Pericarditis, A...	ORPHA:829
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Low-set ears, Microphallus, Hyperechogenic kidneys, Agenesis of cor...	OMIM:612651
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Increased circulating antibody level, Respiratory par...	ORPHA:79139
Coffin-Lowry Syndrome	Optic atrophy, Hypoplastic fingernail, Hyperconvex fingernails, Abnormality of retinal pigmentati...	ORPHA:192
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypopigmented skin patches, Synophrys, Aplastic/hypoplastic toenail	ORPHA:1295
Pontocerebellar Hypoplasia, Type 7	Hirsutism, Hypopigmentation of the skin, Synophrys	OMIM:614969
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Alopecia	OMIM:163200
Porphyria Cutanea Tarda	Hirsutism, Hypopigmentation of the skin, Hypertrichosis, Hyperpigmentation of the skin	ORPHA:101330
Crouzon Syndrome	Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Tremor, Polycythemia, Opisthotonus, Methemoglobinemia	OMIM:250800
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Rhabdomyosarcoma, Recurrent otitis media, Dysgammaglobulinemia, Recu...	OMIM:251260
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Fibroma, Hematuria, Diffuse leiomyomatosis, Sensorineural hearing impairment...	ORPHA:1018
Autosomal Dominant Cutis Laxa	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema, Bronchiolitis	ORPHA:90348
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Immunodeficiency 21	Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in...	OMIM:614172
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Malar rash, Lympho...	ORPHA:50918
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Rigidity...	ORPHA:25
Good Syndrome	Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infections, Decreased circulating ...	ORPHA:169105
Ciliary Dyskinesia, Primary, 42	Pneumonia, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis	OMIM:618695
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232200
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Low-set ears, Total anomalous pulmonary venous return, Asplenia, R...	OMIM:306955
Cog8-Cdg	Prolonged prothrombin time, Spontaneous hematomas, Cerebellar atrophy, Ataxia, Myoclonus	ORPHA:95428
Trichinellosis	Babinski sign, Vertigo, Increased circulating IgE level, Retinal hemorrhage, Anisocoria, Conjunct...	ORPHA:863
Chronic Granulomatous Disease	Hypermelanotic macule, Liver abscess, Hepatomegaly, Inflammatory abnormality of the eye, Eczemato...	ORPHA:379
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility	OMIM:613075
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Alternating Hemiplegia Of Childhood	Paroxysmal dyskinesia, Mydriasis, Oculomotor apraxia, Chorea, Tremor, Rigidity, Dystonia, Ataxia,...	ORPHA:2131
Marfan Syndrome	Pneumothorax, Pulmonary artery dilatation, Emphysema	OMIM:154700
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Meacham Syndrome	Enlarged kidney, Cardiac total anomalous pulmonary venous connection, Accessory spleen, Scimitar ...	OMIM:608978
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Recurrent infections, Secretory IgA deficiency, Decreased circulating IgG level, Unila...	ORPHA:500150
Fabry Disease	Emphysema	ORPHA:324
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Choroidal neovascularization, Iris nevus, Cystoid macular edema, Chorioretin...	ORPHA:91500
Porphyria, Congenital Erythropoietic	Loss of eyelashes, Hyperpigmentation of the skin, Hypopigmentation of the skin, Absent eyebrow, H...	OMIM:263700
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Tick-Borne Encephalitis	Hyperkinetic movements, Increased circulating IgG level, Tongue fasciculations, Incoordination, T...	ORPHA:297
Progressive Supranuclear Palsy	Bradykinesia, Falls, Tremor, Blepharospasm, Rigidity, Dystonia, Unsteady gait	ORPHA:683
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Corneal neovascularization, Hyperkinetic movements, Inability to walk...	ORPHA:404454
Cockayne Syndrome	Optic atrophy, Dry hair, Keratoconjunctivitis sicca, Retinal dystrophy, Corneal ulceration, Band ...	ORPHA:191
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, Increased circulating antibod...	OMIM:615846
Ogden Syndrome	Pulmonary edema, Enlarged kidney, Recurrent otitis media, Protruding ear, Iron deficiency anemia,...	OMIM:300855
Graft Versus Host Disease	Gastrointestinal inflammation, Hemophagocytosis, Inflammatory abnormality of the eye, Stomatitis,...	ORPHA:39812
Leukodystrophy, Hypomyelinating, 3	Abnormal pyramidal sign, Spastic paraparesis, Appendicular spasticity	OMIM:260600
Serotonin Syndrome	Mydriasis, Hypertonia, Tremor, Clonus, Rigidity, Myoclonus	ORPHA:43116
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Hec Syndrome	Developmental cataract, Abnormal pupil morphology	ORPHA:2119
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Astigmatism, Retinal dystrophy, Hyperautofluorescent mac...	OMIM:209900
Immunodeficiency 47	Decreased circulating total IgG, Recurrent infections, Chronic decreased circulating total IgG, S...	OMIM:300972
Immunodeficiency 82 With Systemic Inflammation	Bronchitis, Skin rash, Crohn's disease, T lymphocytopenia, Splenomegaly, Decreased circulating to...	OMIM:619381
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Anisocoria, Hearing impairment, Ataxia, Somatic sensory dysfunction	OMIM:615510
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Nail dystrophy, Ureterocele, Pyoderma, Squamous cell carcinoma...	ORPHA:79404
Bickerstaff Brainstem Encephalitis	Mydriasis, Impaired proprioception, Babinski sign, Dysesthesia, Tetraplegia, Sensory ataxia, Anis...	ORPHA:79138
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, High anterior hairline, Recurrent urinary tract infections, Enuresis nocturna, G...	OMIM:615873
Scrub Typhus	Abnormal bleeding, Tremor, Splenomegaly, Anterior uveitis	ORPHA:83317
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Anemia, Glomerular scl...	OMIM:276700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Tremor, Cerebellar edema, Rigidity, Ataxia, Tetraparesis	OMIM:617186
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Splenomegaly, Duplication of renal pelvis, Hypospadias, Cerebellar vermis hypopl...	OMIM:312870
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autosomal Recessive Spastic Paraplegia Type 55	Babinski sign, Distal sensory impairment, Lower limb spasticity, Spasticity, Poor fine motor coor...	ORPHA:320375
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:231154
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Chronic Graft Versus Host Disease	Pneumothorax, Nail dystrophy, Hematuria, Pancytopenia, Arthritis, Phimosis, Alopecia, Pleural eff...	ORPHA:99921
Mismatch Repair Cancer Syndrome 1	Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling	OMIM:276300
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Truncal ataxia, Persistence of hemoglobin F, Broad-based gait	OMIM:617101
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Hennekam-Beemer Syndrome	Irregular hyperpigmentation, Microtia, Mastocytosis, Hearing impairment, Abnormality of skin pigm...	ORPHA:2135
Williams Syndrome	Chronic otitis media, Sensorineural hearing impairment, Corneal opacity, Ataxia, Low-set, posteri...	ORPHA:904
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H...	OMIM:308300
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection...	OMIM:610910
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cafe-au-lait spot, Hypopigmented skin patches, Curly hair	ORPHA:457485
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Hirsutism, Enlarged polycystic ovaries	ORPHA:90301
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Anemia, Pigmentary retinopathy	ORPHA:436271
Aicardi-Goutières Syndrome	Hypertonia, Developmental glaucoma, Difficulty walking, Chronic lymphatic leukemia, Abnormality o...	ORPHA:51
Trisomy 9P	Protruding ear, Macrotia, Abnormal pupil morphology	ORPHA:236
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Rod-cone dystrophy, Abnormal erythrocyte morphology, Acanthocytosis, Pigmentary re...	ORPHA:96180
Aicardi Syndrome	Optic atrophy, Retinal detachment, Sparse lateral eyebrow, Abnormality of skin pigmentation, Abno...	ORPHA:50
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c	OMIM:609812
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Severe periodontitis, Impaired platelet aggregation, Sinusitis,...	ORPHA:2968
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax	ORPHA:558
Argininemia	Spastic gait, Reduced erythrocyte arginase activity, Cerebellar atrophy, Frequent falls, Spastic ...	OMIM:207800
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Melioidosis	Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit...	ORPHA:31202
Metachromatic Leukodystrophy	Tip-toe gait, Incoordination, Decerebrate rigidity, Tremor, Progressive spasticity, Frequent fall...	ORPHA:512
Mucopolysaccharidosis Type 3	Optic atrophy, Coarse hair, Thick hair, Hirsutism, Corneal opacity, Synophrys, Generalized hirsut...	ORPHA:581
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Sensorineural hearing impairment, Macrotia, Cerebellar hypoplasia, Spastic para...	ORPHA:391408
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal pulmonary interstitial morphology, Hepatomegaly, Acute promyelocytic leukemia, Abnormal ...	ORPHA:77293
Trisomy 8P	Astigmatism, Abnormal middle ear morphology, Dandy-Walker malformation, Heterochromia iridis, Apl...	ORPHA:264450
Nephronophthisis 11	Anemia, Anisocoria	OMIM:613550
Biotinidase Deficiency	Recurrent candida infections, Recurrent viral infections, Ataxia, Spastic paraparesis, Recurrent ...	ORPHA:79241
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Nail...	OMIM:103285
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Posteriorly rotated ears, Recurrent bacterial infections	OMIM:241410
Acquired Purpura Fulminans	Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ...	ORPHA:49566
Cockayne Syndrome B	Optic atrophy, Dry hair, Abnormal hair morphology, Microcornea, Hypoplasia of the iris, Anhidrosi...	OMIM:133540
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Hyperpigmentat...	ORPHA:2556
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, Anemia, Spastic hemiparesis, Spasticity, Leukocytosis, Ataxia, Leukop...	ORPHA:20
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Abnormal medulla oblongata morphology, Sinusitis, Abnormal hypoth...	ORPHA:68
Dpagt1-Cdg	Hypertonia, Astigmatism, Akinesia, Inability to walk, Anemia, Tremor, Abnormal cerebellum morphol...	ORPHA:86309
Rothmund-Thomson Syndrome	Nail dysplasia, Small nail, Abnormality of the nail, Hypopigmentation of the skin, Sparse eyelash...	ORPHA:2909
Craniolenticulosutural Dysplasia	Brittle hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Sparse hair, Coars...	ORPHA:50814
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Coffin-Siris Syndrome	Hypospadias, Small nail, Hypoplastic fifth toenail, Dandy-Walker malformation, Hirsutism, Papilla...	ORPHA:1465
Degcags Syndrome	Premature graying of hair, Sensorineural hearing impairment, Abnormal spleen morphology, Hypopigm...	OMIM:619488
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E...	OMIM:601775
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Chorioretinal lacunae	OMIM:618733
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Protruding ear, Sensorineural hearing impairment, Chronic neutropenia, Macrotia,...	ORPHA:500095
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se...	ORPHA:83461
Trisomy 18	Microcornea, Abnormal toenail morphology, Abnormality of retinal pigmentation, Cataract, Iris col...	ORPHA:3380
Goodpasture Syndrome	Ground-glass opacification, Reticular pattern on pulmonary HRCT, Anemia, Glomerular crescent form...	OMIM:233450
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Listeriosis	Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Acute kidney injury, Splenic a...	ORPHA:533
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema	OMIM:614437
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Upper motor neuron dysfunction, Gait disturbance, Hemiparesis, Ataxia, Spa...	ORPHA:395
Mirage Syndrome	Anemia, Hypospadias, Recurrent urinary tract infections, Aspiration pneumonia, Microphallus, Hypo...	OMIM:617053
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Spastic paraparesis, Posterior subcapsular cataract, Astigmatism, Progressive hearing impairment	OMIM:619234
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Dandy-Walker malformation, Ves...	OMIM:130650
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Ataxia, Thrombocytosis, De...	OMIM:212750
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Pigmentary retinopathy	OMIM:614230
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Anemia, Pancytopenia, Tremor, Thrombocytopenia, Neut...	OMIM:251100
3-Methylglutaconic Aciduria, Type Viii	Hypertonia, Sensorineural hearing impairment, Tremor, Clonus, Dystonia, Cataract, Neutropenia	OMIM:617248
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Cockayne Syndrome A	Optic atrophy, Dry hair, Retinal atrophy, Anhidrosis, Abnormality of skin pigmentation, Sparse ha...	OMIM:216400
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Impaired T cell function, Ataxia, Splenomegaly, Decreased serum testosterone concentration	OMIM:201100
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Hypertonia, Resting tremor, Abnormality of extrapyramidal motor function, Tremor, C...	ORPHA:254892
Cornelia De Lange Syndrome 1	Ectopic kidney, Highly arched eyebrow, Abnormal renal morphology, Sensorineural hearing impairmen...	OMIM:122470
Hepatoportal Sclerosis	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Thrombocytope...	ORPHA:64743
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Anemia, Pigmentary retinopathy	OMIM:220110
Microsporidiosis	Bronchitis, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis, Pneumonia...	ORPHA:2552
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor...	OMIM:612716
Shigellosis	Myocarditis, Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Acute colitis, Arthritis...	ORPHA:810
Khan-Khan-Katsanis Syndrome	Trichiasis, Anemia, Highly arched eyebrow, Corneal scarring, Lymphopenia, Buphthalmos, Peters ano...	OMIM:618460
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Alopecia	ORPHA:47
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Spasticity, ...	OMIM:615512
Chops Syndrome	Thick hair, Vesicoureteral reflux, Aspiration pneumonia, Curly hair, Long eyelashes, Synophrys, H...	OMIM:616368
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
Oculopalatocerebral Syndrome	Spasticity, Leukocoria	OMIM:257910
Niemann-Pick Disease Type C	Chorea, Limb dystonia, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Axial dystonia, Tremor, Catap...	ORPHA:646
Hyperlysinemia	Tip-toe gait, Neck hypertonia, Tremor, Spastic tetraparesis, Poor motor coordination, Recurrent p...	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	HbH hemoglobin, Microcytic anemia, Aplasia/Hypoplasia of the eyebrow	ORPHA:98791
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Crazy paving pattern	ORPHA:264675
Eisenmenger Syndrome	Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia, Lethargy	ORPHA:97214
Hurler Syndrome	Corneal opacity, Cerebral palsy, Hearing impairment, Abnormality of skin pigmentation, Splenomega...	ORPHA:93473
Noonan Syndrome 9	Prolonged prothrombin time, Prominent corneal nerve fibers	OMIM:616559
Syndromic Diarrhea	Trichorrhexis nodosa, Panhypogammaglobulinemia, Brittle hair, Recurrent infections, Hypopigmentat...	ORPHA:84064
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Brittle hair, Generalized hypopigmentation, Woolly hair, Curly hair, Cafe-a...	OMIM:222470
Mandibuloacral Dysplasia	Abnormality of skin pigmentation, Hypoplastic fingernail, Sparse hair, Alopecia	ORPHA:2457
Infantile Neuroaxonal Dystrophy	Cerebellar gliosis, Cerebellar atrophy, Dystonia, Aspiration pneumonia	ORPHA:35069
Mosaic Trisomy 8	Hypopigmented skin patches, Hypopigmentation of the skin	ORPHA:96061
Atypical Werner Syndrome	Premature graying of hair, Abnormal hair morphology, Abnormal hair quantity, White forelock, Frag...	ORPHA:79474
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Babinski sign, Low-set, posteriorly rotated ears, Decreased circulati...	ORPHA:3132
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Skin rash, Proteinuria, Pneumonia, ...	ORPHA:247691
Young-Onset Parkinson Disease	Bradykinesia, Gait imbalance, Spasticity, Tremor, Rigidity, Dystonia	ORPHA:2828
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Low-set ears, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Synovitis, Nephrotic syndrome, Hearing impairment, Rhinitis, K...	ORPHA:499009
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Melena, Subcutaneous ...	ORPHA:99147
Collagenoma, Familial Cutaneous	Sensorineural hearing impairment, Iris atrophy	OMIM:115250
Incontinentia Pigmenti	Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplastic fingernail, Abnormal hair mo...	ORPHA:464
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia	ORPHA:1647
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Tremor, Low-set ears, Intention tremor, Ataxia, Cataract	OMIM:614052
Postinfectious Vasculitis	Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i...	ORPHA:48435
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Hereditary Pheochromocytoma-Paraganglioma	Aniridia, Tremor, Vocal cord paralysis, Elevated circulating calcitonin concentration, Conductive...	ORPHA:29072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar cyst, Buphthalmos, Persistent pupillary membrane, Cerebellar dysplasia, Partial absenc...	OMIM:613150
Linear Skin Defects With Multiple Congenital Anomalies 1	Sclerocornea, Cataract, Peters anomaly, Pigmentary retinopathy, Iris coloboma	OMIM:309801
Roifman-Chitayat Syndrome	Pneumonia, Arthritis, Ectopic kidney	OMIM:613328
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Gliosis	OMIM:608033
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Viss Syndrome	Pneumothorax, Pulmonary artery aneurysm, Emphysema, Increased circulating IgG level, Increased ci...	OMIM:619472
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pulmonary edema, Enlarged kidney, Pleural effusion	OMIM:261740
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Hirsutism, Low-set ears, Aspiration pneumonia, ...	ORPHA:79255
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398069
Cartilage-Hair Hypoplasia	Sparse eyebrow, Abnormality of retinal pigmentation, Sparse hair	ORPHA:175
Cryptococcosis	Pneumonia, Prostatitis, Lymphoid leukemia, Abnormality of the outer ear, Pleural effusion, Perito...	ORPHA:1546
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypopigmentation of th...	ORPHA:221008
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Low-set ears, Hypoplasia of the iris, Hear...	ORPHA:96125
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Sp...	OMIM:618329
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Nephrotic syndrome, ...	OMIM:194080
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Neonatal sepsis, Recurrent lower respiratory tract infections, Recurrent urinary tract in...	OMIM:612541
Timothy Syndrome	Pneumonia, Bronchitis, Cardiomegaly	OMIM:601005
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Lacticaciduria, Aspiration pneumonia, Dystonia, Left ventricular hypertrophy, Keton...	OMIM:619167
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Anemia, Corneal erosion, Thrombocytopenia, Conjunctivitis, Abnormali...	ORPHA:36426
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Abnormal bleeding, Increased circulating antibody level, Petechiae, N...	ORPHA:99826
Traboulsi Syndrome	Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chamber, Cataract, Spo...	OMIM:601552
Localized Scleroderma	Hypopigmented skin patches, Hyperpigmentation of the skin, Patchy alopecia, Vitiligo, Abnormal sk...	ORPHA:90289
Alstrom Syndrome	Subcapsular cataract, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Pigmentary r...	OMIM:203800
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pulmonary infiltrates, Pancreatitis	ORPHA:70578
Melas	Optic atrophy, Hypertrichosis, Vitiligo, Pigmentary retinopathy	ORPHA:550
Dubowitz Syndrome	Hypoplastic toenails, Protruding ear, Anemia, Hypospadias, Low-set, posteriorly rotated ears, Abn...	ORPHA:235
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Acute kidney injury, Pancreatitis, Pleuritis, Acute colitis, Oliguria, Anuria, Pleur...	ORPHA:544482
Supranuclear Palsy, Progressive, 1	Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Tremor, Limb dystonia...	OMIM:601104
Williams-Beuren Syndrome	Premature graying of hair, Recurrent otitis media, Gait imbalance, Chiari type I malformation, In...	OMIM:194050
Gapo Syndrome	Hypopigmented skin patches, Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia	ORPHA:2067
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Castleman Disease	Thrombocytopenia, Anemia, Decreased mean corpuscular volume	ORPHA:160
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:739
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypopigmentation of th...	ORPHA:221016
Wilson Disease	Sunflower cataract, Anemia, Abnormality of extrapyramidal motor function, Kayser-Fleischer ring, ...	OMIM:277900
Hepatoerythropoietic Porphyria	Loss of eyelashes, Scarring alopecia of scalp, Hyperpigmentation of the skin, Hypopigmentation of...	ORPHA:95159
Combined Oxidative Phosphorylation Deficiency 25	Sensorineural hearing impairment, Cerebellar atrophy, Low-set ears, Aspiration pneumonia, Hypopla...	OMIM:616430
Cystinosis, Nephropathic	Recurrent corneal erosions, Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, ...	OMIM:219800
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Pancytopenia, Highly arched eyebrow, Recurrent urinary tract infections...	ORPHA:309282
Oculo-Palato-Cerebral Syndrome	Spasticity, Macrotia, Leukocoria, Cataract, Thickened helices	ORPHA:2714
Pulmonary Capillary Hemangiomatosis	Ground-glass opacification, Pulmonary edema, Pulmonary capillary hemangiomatosis, Centrilobular g...	ORPHA:199241
Alagille Syndrome	Protruding ear, Keratoconus, Corneal dystrophy, Abnormal pupil morphology	ORPHA:52
Alg12-Cdg	Prolonged prothrombin time, Partial absence of specific antibody response to Haemophilus influenz...	ORPHA:79324
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Abnormality of macular pigmentation, Megaloblastic anemia, Throm...	ORPHA:79282
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals, Pigmentary retinopathy	ORPHA:411629
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Acute kidney injury, Anemia, Acute tubulointerstitial nephritis, Decreased glome...	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	Abnormal B cell morphology, Low-set ears, T lymphocytopenia, Ectopia pupillae, Aplasia of the thy...	OMIM:618223
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo...	ORPHA:35909
African Trypanosomiasis	Fasciculations, Abnormal growth hormone level, Splenomegaly, Impaired proprioception, Akinesia, I...	ORPHA:3385
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Sialuria	Prolonged prothrombin time, Hyperkinetic movements, Hepatosplenomegaly, Low-set ears	ORPHA:3166
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Micropenis	ORPHA:98905
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Anisocoria, Congenital sensorineural hearing impairment, Cataract, Abnormal pupil shape	ORPHA:45358
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor...	ORPHA:328
Harrod Syndrome	Hypopigmented skin patches	ORPHA:2115
Classical Ehlers-Danlos Syndrome	Abnormal cornea morphology, Ecchymosis, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Abnormal uvea morphology...	ORPHA:217085
Eec Syndrome	Nail dystrophy, Slow-growing hair, Generalized hypopigmentation, Sparse eyebrow, Nail pits, Thick...	ORPHA:1896
Mucopolysaccharidosis Type 2	Optic atrophy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality...	ORPHA:580
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Absent eyelashes, Microtia, Absent eyebrow, Hearing impairment, Abnormality of...	ORPHA:920
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Sparse scalp hair, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:615789
Cleft Velum	Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Marshall-Smith Syndrome	Cerebellar hypoplasia, Brittle hair, Highly arched eyebrow, Bilateral conductive hearing impairme...	OMIM:602535
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Kasabach-Merritt Phenomenon	Prolonged prothrombin time, Purpura, Anemia, Petechiae, Reticulocytosis, Leukopenia, Thrombocytop...	ORPHA:2330
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Abnormal uvea morphology...	ORPHA:217093
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy	OMIM:253700
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Seborrheic dermatitis, Microtia, Nephroblastoma, Multiple lipomas	ORPHA:276280
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Gait disturbance, ...	ORPHA:1606
Koolen-De Vries Syndrome	Cataract, Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	OMIM:274150
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Renal tubular epithelial necrosis, Nail dystrophy, Skin rash, Hypopigmentation of the skin, Anter...	ORPHA:95455
Norrie Disease	Abnormal chorioretinal morphology, Hypertonia, Protruding ear, Aplasia/Hypoplasia of the lens, Se...	ORPHA:649
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the eye...	ORPHA:2637
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Cardiac-Urogenital Syndrome	Enlarged kidney, Patent urachus, Penoscrotal hypospadias, Accessory spleen, Scimitar anomaly, Pul...	OMIM:618280
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Gliosis, Cerebellar atrophy, Aspiration pneumonia, Hearing i...	OMIM:301072
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Normocytic anemia, Low-set ears, Thrombocytopenia, Neutropenia	OMIM:617941
Facial Spasm	Anisocoria	OMIM:134300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Astigmatism, Persistence of hemoglobin F	OMIM:619769
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Recurrent bacterial infections	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, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:255210
Immunodeficiency 87 And Autoimmunity	Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Recurrent viral infections, Rec...	OMIM:619573
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Decreased cir...	ORPHA:247598
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Low-set ears, Nephrocalcinosis, Protru...	ORPHA:508
Lissencephaly Due To Lis1 Mutation	Cerebellar vermis hypoplasia, Opisthotonus, Aspiration pneumonia	ORPHA:95232
3Q29 Microdeletion Syndrome	Abnormality of skin pigmentation, Low-set ears, Macrotia	ORPHA:65286
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Thrombocytopenia, Pigmentary retinopathy, Neutropenia	OMIM:277400
Alagille Syndrome 1	Abnormal anterior chamber morphology, Band keratopathy, Chorioretinal atrophy, Microcornea, Axenf...	OMIM:118450
Spondylocarpotarsal Synostosis Syndrome	Cataract, Abnormality of retinal pigmentation	OMIM:272460
Patent Urachus	Recurrent urinary tract infections, Recurrent gram-negative bacterial infections	ORPHA:431341
Pearson Syndrome	Anemia, Hyperpigmentation of the skin, Pancytopenia, Corneal stromal edema, Reticulocytosis, Cafe...	ORPHA:699
Koolen-De Vries Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Cafe-au-lait spot, Vitiligo, Fair hair, Alopecia	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypopigmentation of the skin, Cafe-au-lait spot, Vitiligo, Fair hair, Alopecia	ORPHA:363958
Axenfeld-Rieger Syndrome, Type 1	Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri...	OMIM:180500
Neuroleptic Malignant Syndrome	Acute kidney injury, Urinary incontinence, Oculogyric crisis, Myoglobinuria, Tremor, Leukocytosis...	ORPHA:94093
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Synophrys	OMIM:301066
Weill-Marchesani Syndrome 2	Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, Ectopia lentis, Shallow anterior cha...	OMIM:608328
Scorpion Envenomation	Mydriasis, Purpura, Hyperkinetic movements, Tremor, Hemifacial spasm, Ataxia, Myoclonus, Paresthesia	ORPHA:466677
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia	ORPHA:99901
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hypoplastic fingernail, Hyperconvex fingernails, Recurrent infections, Abnormal hair morphology, ...	ORPHA:2273
Adrenomyeloneuropathy	Spastic gait, Babinski sign, Distal sensory impairment, Spasticity, Dysesthesia, Progressive spas...	ORPHA:139399
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology, Bruising susceptibility, Subarachnoid hemorrhage	ORPHA:91387
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Hypospadias, Recurrent urinary tract infections, Pilomatrixoma, Vesicoureteral...	ORPHA:353281
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Hypopigmentation of hair, Posteriorly rotated ears, Overfolded helix, Dry hair, Wido...	ORPHA:1974
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Linear hyperpigmentation, Ridged nail, Brittle hair, Hypoplastic ...	OMIM:305600
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Hirsutism, Dermatan sulfate excretion in urine, Hearing impairment, Splenomegaly, R...	OMIM:253200
Factor X Deficiency	Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra...	OMIM:227600
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Neurooculorenal Syndrome	Mixed hearing impairment, Decreased circulating ACTH concentration, Cerebellar vermis hypoplasia,...	OMIM:620305
Cystic Fibrosis	Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec...	ORPHA:586
Congenital Erythropoietic Porphyria	Loss of eyelashes, Scarring alopecia of scalp, Hyperpigmentation of the skin, Hypopigmentation of...	ORPHA:79277
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Developmental cataract, Sparse hair, Cataract, Pigmentary retinopathy	OMIM:606721
Retinoblastoma	Vitreous hemorrhage, Leukemia, Leukocoria	OMIM:180200
Fanconi Anemia, Complementation Group A	Cafe-au-lait spot, Abnormality of skin pigmentation, Hearing impairment	OMIM:227650
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation	ORPHA:747
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Sparse lateral eyebrow, Recurrent pneumonia, Low-set ears, Aspiration pneumonia	ORPHA:314655
Hellp Syndrome	Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Internal hemorrh...	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	Cataract, Microcornea, Sclerocornea, Ectopia pupillae	OMIM:615877
Kabuki Syndrome 1	Protruding ear, Recurrent otitis media, Highly arched eyebrow, Hirsutism, Low-set ears, Cafe-au-l...	OMIM:147920
Wiedemann-Rautenstrauch Syndrome	Small nail, Small earlobe, Alopecia of scalp, Hypospadias, Dandy-Walker malformation, Absent eyel...	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	Mixed hearing impairment, Highly arched eyebrow, Sensorineural hearing impairment, Hypospadias, L...	ORPHA:444077
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Prader-Willi Syndrome	Generalized hypopigmentation, Frontal upsweep of hair	OMIM:176270
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad eyebrow, Hypopigmentation of the skin, Synophrys, Abnormality of skin pigmentation, Thick e...	OMIM:619475
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Anemia, Abnormal hemoglobin	ORPHA:847
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:618458
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Abnormality of the kidney, Trichiasis, Hypospadias, Chiari...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Abnormality of the kidney, Trichiasis, Hypospadias, Chiari...	ORPHA:353277
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Hypopigmented skin patches, Nail dystrophy, Dystrophic fingernails, ...	ORPHA:2907
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Small nail, Hypopigmentation of the skin, Congenital ...	ORPHA:821
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Liver Disease, Severe Congenital	Nail dystrophy, Lymphocytosis, Leukopenia, Splenomegaly, Cardiomegaly, Hypospadias, Chronic gastr...	OMIM:619991
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal neuron branching, Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Xeroderma Pigmentosum	Hypopigmented skin patches, Hypermelanotic macule, Melanocytic nevus, Freckling, Alopecia	ORPHA:910
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia	ORPHA:330015
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Prolonged prothrombin time, Abnormal bleeding, Epistaxis	OMIM:610842
Doors Syndrome	Toenail dysplasia, Capillary hemangioma, Dandy-Walker malformation, Low-set ears, Absent fingerna...	ORPHA:79500
Acute Liver Failure	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Incoordination, Throm...	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
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ...	OMIM:277450
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Mosaic Trisomy 20	Depigmentation/hyperpigmentation of skin, Hypopigmented streaks	ORPHA:1724
Cancer-Associated Retinopathy	Granular macular appearance, Optic atrophy, Retinal atrophy, Optic disc pallor, Retinal pigment e...	ORPHA:71505
X-Linked Intellectual Disability, Nascimento Type	Nail dystrophy, Lumbar hypertrichosis, Low posterior hairline, Synophrys, Generalized hirsutism, ...	ORPHA:163956
Cholera	Acute kidney injury, Abnormality of renal excretion, Aspiration pneumonia, Decreased urine output	ORPHA:173
Microphthalmia, Syndromic 2	Cupped ear, Dandy-Walker malformation, Microcornea, Sensorineural hearing impairment, Anteverted ...	OMIM:300166
Hemophilia B	Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he...	OMIM:306900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Sensorineural hearing impairment, Iris atrophy, Hyphema, Ectopia pupillae, Enlarged cerebellum, A...	ORPHA:261552
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Cafe-au-lait spot, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko li...	OMIM:210720
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Increased circulating IgE l...	OMIM:147060
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Splenomegaly	OMIM:618641
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Optic disc hypoplasia, Hirsutism, Corneal opacity, Sparse scalp hair, Synophrys, A...	ORPHA:3455
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Ataxia, Episodic ataxia	OMIM:311250
Yellow Fever	Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Leukocytosis, Internal hemorrhage, In...	ORPHA:99829
Ring Chromosome 13 Syndrome	Cafe-au-lait spot, Abnormality of skin pigmentation, Macrotia, Posteriorly rotated ears, Alopecia	ORPHA:96176
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Clonus, Myoclonus, Spastic tetraplegia, Intraventricular hemorrhage	OMIM:619055
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Decreased circulating IgG level	OMIM:613070
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Generalized hypopigmentation, Alopecia	OMIM:619321
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Sensorineural hearing impairment	OMIM:614300
Kindler Syndrome	Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:173650
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the pons, Cerebellar hypoplasia, Prolonged prothrombin time	ORPHA:88618
Lysinuric Protein Intolerance	Decreased circulating antibody level, Increased circulating antibody level, Recurrent bacterial i...	ORPHA:470
Ring Chromosome 7 Syndrome	Hyperpigmented nevi, Highly arched eyebrow, Small earlobe, Cafe-au-lait spot, Abnormality of skin...	ORPHA:1449
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Hematochezia, Splenomegaly	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, Hypopigmentation of hair, Abnormal eyelash morphology, Sclerocornea, Cataract, Iri...	ORPHA:818
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Absent anterior chamber of the eye	OMIM:259770
Alkaptonuria	Irregular hyperpigmentation, Abnormality of the nail, Abnormality of skin pigmentation, Corneal a...	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	Prolonged prothrombin time, Abnormal earlobe morphology, Epistaxis, Hematochezia, Posteriorly rot...	ORPHA:96168
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Uveitis	ORPHA:171
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Fanconi Anemia	Hypopigmented skin patches, Abnormality of skin pigmentation, Irregular hyperpigmentation, Multip...	ORPHA:84
Cowden Syndrome	Hypopigmented skin patches, Multiple cafe-au-lait spots, Melanocytic nevus	ORPHA:201
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Recurrent otitis media, Anemia, Low-set ears, Thrombocytopenia, Splen...	OMIM:619525
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Hematochezia	OMIM:214950
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time, Recurrent otitis media, Decreased serum insulin-like growth factor 1	OMIM:614921
Plague	Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthrit...	ORPHA:707
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Anemia, Vesicoureteral reflux, Nephrolithiasis, Aspiration pneumonia, Exa...	ORPHA:438213
Pallister-Killian Syndrome	Sparse anterior scalp hair, Hypopigmentation of the skin, Sparse scalp hair, Hypopigmented streak...	OMIM:601803
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Patchy hypo- and hyperpigmentation, Synophrys	ORPHA:3063
Yunis-Varon Syndrome	Small earlobe, Microtia, Sensorineural hearing impairment, Aplasia/Hypoplasia of the nails, Hypos...	OMIM:216340
Isolated Biliary Atresia	Prolonged prothrombin time, Splenomegaly	ORPHA:30391
Semilobar Holoprosencephaly	Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, Agenesis of corpus callosum	ORPHA:220386
Alobar Holoprosencephaly	Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, Agenesis of corpus callosum	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	Abnormal renal tubule morphology, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Abnorm...	ORPHA:79318
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Microphthalmia, Syndromic 1	Ciliary body coloboma, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Iris coloboma	OMIM:309800
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Aplasia/Hypoplasia of the earlobes, Keratoconus, Vertigo, Internal hemorrhage,...	ORPHA:286
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Aplasia of the sweat glands	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

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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

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Gene: Lyst MGI:107448

Gene Summary

IMPC Data Collections

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Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Pathology and Tissue Collection

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Combined SHIRPA and Dysmorphology

X-ray

Eye Morphology

X-ray

Eye Morphology

Histopathology

X-ray

Human diseases caused by Lyst mutations

Histopathology

IMPC related publications

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