| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Adrenocortical Carcinoma, Hereditary |
|
Adrenocortical carcinoma |
OMIM:202300 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Deafness, Conductive, With Malformed External Ear |
|
Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormality of the pinna, ... |
OMIM:221300 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... |
ORPHA:3216 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... |
OMIM:609129 |
| Isolated Cleft Lip |
|
Polyhydramnios, Conductive hearing impairment, Chronic otitis media, Non-midline cleft lip, Hypod... |
ORPHA:199302 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Edema of the dorsum of hands, Facial edema |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Van Der Woude Syndrome 2 |
|
Cleft palate, Cleft upper lip, Anodontia |
OMIM:606713 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... |
OMIM:128980 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... |
OMIM:108760 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Edema of the dorsum of hands, Facial edema |
OMIM:619361 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
| Deafness-Hypogonadism Syndrome |
|
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... |
ORPHA:90646 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Branchiootic Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... |
ORPHA:52429 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormality of the antihelix, Accessory oral frenulum, Large earlobe, Absent tragus, Overfolded h... |
ORPHA:79113 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility, Bilateral sensorineural heari... |
OMIM:611102 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cleft palate, Non-midline cleft lip, Tooth agenesis |
ORPHA:1074 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Abcd Syndrome |
|
Large for gestational age, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic m... |
OMIM:600501 |
| Angioedema, Hereditary, 8 |
|
Laryngeal edema, Angioedema, Edema of the dorsum of hands, Facial edema |
OMIM:619367 |
| Branchiogenic-Deafness Syndrome |
|
Abnormality of the middle ear ossicles, Atresia of the external auditory canal, Sensorineural hea... |
OMIM:609166 |
| Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Microtia |
OMIM:251800 |
| Deafness-Infertility Syndrome |
|
Male infertility, Sensorineural hearing impairment, Azoospermia |
ORPHA:94064 |
| Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Abnormality of the dentition, Abnormality of the out... |
OMIM:182290 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism |
OMIM:103900 |
| Van Der Woude Syndrome 1 |
|
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Conductive hearing impai... |
ORPHA:3236 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Cleft palate |
OMIM:258320 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Recurrent otitis media, Abnormality of the Eustachian tube, Absent cupid's bow, Failure to thrive... |
ORPHA:513456 |
| Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
| Branchiogenic Deafness Syndrome |
|
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... |
ORPHA:50815 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... |
ORPHA:2549 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Congenital Velopharyngeal Incompetence |
|
Hearing impairment, Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
| Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
| Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... |
ORPHA:107 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Cleft Velum |
|
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia, Cleft soft palate, V... |
ORPHA:99772 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... |
OMIM:617519 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema |
OMIM:618773 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Acrocraniofacial Dysostosis |
|
Short philtrum, Conductive hearing impairment, Natal tooth, Abnormality of the outer ear, Abnorma... |
OMIM:201050 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... |
OMIM:601596 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Gastric Cancer, Hereditary Diffuse |
|
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate |
OMIM:137215 |
| Acrocraniofacial Dysostosis |
|
Abnormality of the incus, Abnormality of the middle ear ossicles, Short philtrum, Abnormality of ... |
ORPHA:949 |
| Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth |
OMIM:183300 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip |
ORPHA:1991 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... |
ORPHA:888 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Spermatogenic Failure 5 |
|
Male infertility, Functional abnormality of male internal genitalia |
OMIM:243060 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate |
ORPHA:3448 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity |
OMIM:601455 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy |
OMIM:125250 |
| Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Chronic rhinitis, Male in... |
OMIM:612444 |
| Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... |
OMIM:226440 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... |
OMIM:619095 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia, Premature ovarian insufficiency, Male hypogonadism, Iridocyclitis, Chronic ora... |
OMIM:240300 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
| Lateral Meningocele Syndrome |
|
Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impairment, Atresia o... |
ORPHA:2789 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619094 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619144 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... |
OMIM:301059 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Conductive hearing impairment, Recurrent otitis media, Oral cleft, P... |
ORPHA:199306 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... |
OMIM:618664 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:236110 |
| Familial Hyperaldosteronism Type Ii |
|
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
| Lateral Meningocele Syndrome |
|
Long philtrum, Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impair... |
OMIM:130720 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... |
ORPHA:3453 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Mohr-Tranebjaerg Syndrome |
|
Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impairment, As... |
ORPHA:52368 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility |
OMIM:619102 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:618948 |
| Lymphatic Malformation 7 |
|
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema |
OMIM:617300 |
| Ciliary Dyskinesia, Primary, 18 |
|
Recurrent otitis media, Immotile sperm, Recurrent sinusitis, Absent outer dynein arms, Rhinitis, ... |
OMIM:614874 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate |
OMIM:616898 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... |
OMIM:619379 |
| Familial Hyperaldosteronism Type I |
|
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
| Bifid Uvula |
|
Bifid uvula, Submucous cleft soft palate, Cleft lip |
ORPHA:99771 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Spermatogenic Failure 7 |
|
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia |
OMIM:612997 |
| Branchiootorenal Syndrome 1 |
|
Hypoplasia of the cochlea, Conductive hearing impairment, Intestinal malrotation, Cupped ear, Sen... |
OMIM:113650 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic sinusitis, Reduced sperm motility, Bronchiectasis, Absent inner dynein arms, Immotile spe... |
OMIM:613807 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia |
OMIM:619108 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... |
OMIM:618643 |
| Arthrogryposis, Distal, Type 2A |
|
Pursed lips, Long philtrum, Polyhydramnios, Narrow mouth, Oligohydramnios, Dental crowding, Heari... |
OMIM:193700 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia |
ORPHA:1646 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus |
ORPHA:189439 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... |
ORPHA:1215 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest |
OMIM:619145 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... |
ORPHA:529970 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate |
OMIM:600251 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... |
OMIM:219080 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic sinusitis, Bronchiectasis, Conductive hearing impairment, Chronic otitis media, Pneumonia... |
OMIM:244400 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Edema, Facial edema |
OMIM:618154 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
| Cockayne Syndrome Type 1 |
|
Enamel hypoplasia, Delayed eruption of primary teeth, Male hypogonadism, Macrotia, Hypoplasia of ... |
ORPHA:90321 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip |
OMIM:174300 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Yellow Nail Syndrome |
|
Lymphedema, Predominantly lower limb lymphedema |
OMIM:153300 |
| Trisomy 8P |
|
Thin vermilion border, Malrotation of small bowel, Conductive hearing impairment, Morphological a... |
ORPHA:264450 |
| Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate |
OMIM:614402 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Trisomy 10P |
|
Thin vermilion border, Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated... |
ORPHA:171929 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Wide mouth, Irregular dentition, Abnormal auditory evoked potentials, Sensorineural hearing impai... |
OMIM:619260 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90793 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
| Familial Hyperaldosteronism Type Iii |
|
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... |
OMIM:618433 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Cleft palate |
ORPHA:2521 |
| Fraser Syndrome 1 |
|
Difficulty in tongue movements, Dental crowding, Conductive hearing impairment, Abnormality of th... |
OMIM:219000 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Diabetes mellitus, Macronodular adrenal hyperplasia |
ORPHA:189427 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... |
OMIM:265300 |
| Adult Krabbe Disease |
|
Erectile dysfunction, Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate |
ORPHA:2736 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Conductive hearing impairment, Recurrent otitis media, Chronic otitis media, Inte... |
ORPHA:244 |
| Mucopolysaccharidosis Type 3 |
|
Thickened helices, Abnormality of the middle ear ossicles, Macroglossia, Conductive hearing impai... |
ORPHA:581 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnormal autonomic nerv... |
OMIM:609136 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses, Atopic dermatitis |
ORPHA:3240 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... |
ORPHA:206443 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Erectile dysfunction, Impotence, Abnormal... |
ORPHA:99027 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Hearing impairment, Cachexia, Failure to thrive, ... |
ORPHA:206436 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... |
ORPHA:101085 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms |
OMIM:618801 |
| Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Recurrent sinusitis, Immotile sperm, Absent central microtubular pair morphology ... |
OMIM:617091 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... |
ORPHA:90791 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... |
OMIM:202010 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Cleft palate, High palate, ... |
ORPHA:401973 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Abnormal circulating renin, Adrenal hyperplasia, Hyperaldosteronism |
ORPHA:369929 |
| Familial Male-Limited Precocious Puberty |
|
Male infertility, Acne, Oligospermia |
ORPHA:3000 |
| Cockayne Syndrome A |
|
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Irregular menstruation, Ab... |
OMIM:216400 |
| Cockayne Syndrome B |
|
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Abnormality of the pinna, ... |
OMIM:133540 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... |
ORPHA:786 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Macroorchidism, Hyperactive renin-angiotensin system, Incre... |
ORPHA:90790 |
| Cushing Disease |
|
Adrenal hyperplasia, Premature ovarian insufficiency, Diabetes mellitus, Pituitary adenoma |
ORPHA:96253 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Delayed eruption of teeth, Narrow mouth, Overfolded helix, Conductive hearing imp... |
OMIM:300990 |
| Warburg-Cinotti Syndrome |
|
Hypoplasia of the ear cartilage, Joint swelling, Dental crowding, Conductive hearing impairment, ... |
OMIM:618175 |
| Lymphatic Malformation 6 |
|
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Nonimmune hydrops fet... |
OMIM:616843 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Hearing impairment, Recurrent infections of the middle ear |
ORPHA:217622 |
| Bloom Syndrome |
|
Skin rash, Premature ovarian insufficiency, Azoospermia, Oligospermia, Esophageal neoplasm, Uveit... |
ORPHA:125 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... |
ORPHA:261529 |
| 47,Xyy Syndrome |
|
Low-set ears, Male infertility, Azoospermia, Oligospermia |
ORPHA:8 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to ACTH stimulation test, Cryptorchidism, Increased circulating corticosterone ... |
ORPHA:95699 |
| Classic Galactosemia |
|
Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Ascites... |
ORPHA:79239 |
| Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Hearing impairment, Male infertility, Small for gestational age |
OMIM:227650 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor, Optic n... |
ORPHA:909 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
| Noonan Syndrome 1 |
|
Lymphedema, Low-set, posteriorly rotated ears, Dental malocclusion, Synovitis, Failure to thrive ... |
OMIM:163950 |
| Limb-Mammary Syndrome |
|
Chronic irritative conjunctivitis, Submucous cleft soft palate, Primary amenorrhea, Hypodontia, P... |
ORPHA:69085 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Azoospermia, Chordee, Low-set, posteriorly rotated ears, Recurrent otitis media, Streak ovary, He... |
ORPHA:1772 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Cystic Fibrosis |
|
Chronic sinusitis, Male infertility, Bronchiectasis, Steatorrhea, Rectal prolapse, Dehydration, I... |
OMIM:219700 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligospermia |
ORPHA:48 |
| Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
| Complete Androgen Insensitivity Syndrome |
|
Primary amenorrhea, Male infertility, Acne |
ORPHA:99429 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis |
OMIM:236680 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Male infertility, Eunucho... |
ORPHA:91 |
| Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
| Doors Syndrome |
|
Congenital hypothyroidism, Adrenal hyperplasia |
ORPHA:79500 |
| Partial Androgen Insensitivity Syndrome |
|
Male sexual dysfunction, Male infertility, Azoospermia, Primary amenorrhea |
ORPHA:90797 |
| Cystinosis, Nephropathic |
|
Male infertility, Dehydration, Male hypogonadism, Failure to thrive in infancy |
OMIM:219800 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Decreased fertility in females, Azoospermia, Hypergonadotropic hypogonadism, Streak ovary, Primar... |
ORPHA:251510 |
| Cardiomyopathy, Dilated, 1J |
|
Sensorineural hearing impairment |
OMIM:605362 |
